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Publication DateNeurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
OBJECTIVE:To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense...
PUNCTURE HEADACHE | ANTISENSE OLIGONUCLEOTIDE | FUNCTIONAL MOTOR SCALE | CLINICAL NEUROLOGY | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | Index Medicus | Abridged Index Medicus | 324 | 117 | 227 | 252
PUNCTURE HEADACHE | ANTISENSE OLIGONUCLEOTIDE | FUNCTIONAL MOTOR SCALE | CLINICAL NEUROLOGY | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | Index Medicus | Abridged Index Medicus | 324 | 117 | 227 | 252
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Loading RightsEuropean Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of similar to 1 in 10 000 live births and is second to...
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | COPIES | DEPENDENT PROBE AMPLIFICATION | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | IDENTIFICATION | QUANTITATIVE-ANALYSIS | COPY NUMBER | GENETICS & HEREDITY | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis | Index Medicus
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | COPIES | DEPENDENT PROBE AMPLIFICATION | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | IDENTIFICATION | QUANTITATIVE-ANALYSIS | COPY NUMBER | GENETICS & HEREDITY | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis | Index Medicus
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Loading RightsThe Journal of Pediatrics, ISSN 0022-3476, 11/2017, Volume 190, pp. 124 - 129.e1
To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). We performed a screening trial to...
spinal muscular atrophy | recombination | real-time PCR | SMN1 | newborn screening | SEVERE COMBINED IMMUNODEFICIENCY | MOTOR-NEURON GENES | SMA | COPY NUMBER | SMN2 | PEDIATRICS | MECHANISMS | NATURAL-HISTORY | CHINESE POPULATION | PCR | HYBRID GENES | Muscular Atrophy, Spinal - diagnosis | Humans | Real-Time Polymerase Chain Reaction - methods | Infant | Male | Neonatal Screening - methods | Pilot Projects | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Taiwan | Female | Early Diagnosis | Infant, Newborn | Index Medicus | Abridged Index Medicus
spinal muscular atrophy | recombination | real-time PCR | SMN1 | newborn screening | SEVERE COMBINED IMMUNODEFICIENCY | MOTOR-NEURON GENES | SMA | COPY NUMBER | SMN2 | PEDIATRICS | MECHANISMS | NATURAL-HISTORY | CHINESE POPULATION | PCR | HYBRID GENES | Muscular Atrophy, Spinal - diagnosis | Humans | Real-Time Polymerase Chain Reaction - methods | Infant | Male | Neonatal Screening - methods | Pilot Projects | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Taiwan | Female | Early Diagnosis | Infant, Newborn | Index Medicus | Abridged Index Medicus
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Loading RightsAnalytical Chemistry, ISSN 0003-2700, 10/2018, Volume 90, Issue 19, pp. 11599 - 11606
In this study, a fast and simple fluorescent genotyping strategy, streptavidin magnetic beads combined with biotin-coupled PCR and restriction-fragment...
Biotin - chemistry | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | DNA - chemistry | Humans | Polymerase Chain Reaction | Survival of Motor Neuron 1 Protein - genetics | Spectrometry, Fluorescence | Genotype | Polymorphism, Single Nucleotide | DNA - metabolism | Magnetics | Copy number | Genes | SMN protein | Fluorescence | Biotin | Single-nucleotide polymorphism | Nucleotides | Regression analysis | Medical diagnosis | Spinal muscular atrophy | Fragmentation | Polymerase chain reaction | Atrophy | Genotype & phenotype | Muscle fatigue | Genotyping | Streptavidin | Diagnosis | Clinical medicine | Beads | Genotypes | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus
Biotin - chemistry | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | DNA - chemistry | Humans | Polymerase Chain Reaction | Survival of Motor Neuron 1 Protein - genetics | Spectrometry, Fluorescence | Genotype | Polymorphism, Single Nucleotide | DNA - metabolism | Magnetics | Copy number | Genes | SMN protein | Fluorescence | Biotin | Single-nucleotide polymorphism | Nucleotides | Regression analysis | Medical diagnosis | Spinal muscular atrophy | Fragmentation | Polymerase chain reaction | Atrophy | Genotype & phenotype | Muscle fatigue | Genotyping | Streptavidin | Diagnosis | Clinical medicine | Beads | Genotypes | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus
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Loading RightsMONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 12/2015, Volume 163, Issue 12, pp. 1293 - 1301
Spinal muscular atrophy (SMA) is an autosomal recessive disease and the most common genetically linked cause of infant death. It is also one of the most...
Swallowing and nutritional disorders | Muscle weakness | Respiratory insufficiency | Floppy infant | Muscular hypotonia | PEDIATRICS
Swallowing and nutritional disorders | Muscle weakness | Respiratory insufficiency | Floppy infant | Muscular hypotonia | PEDIATRICS
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Loading RightsJournal of Child Neurology, ISSN 0883-0738, 08/2007, Volume 22, Issue 8, pp. 1027 - 1049
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular...
Standard of care | Consensus statement | Spinal muscular atrophy | COMMUNITY-ACQUIRED PNEUMONIA | LEAN BODY-MASS | HIP DISLOCATION | NEUROMUSCULAR DISORDERS | standard of care | RESPIRATORY-DISTRESS | FUNCTIONAL MOTOR SCALE | WERDNIG-HOFFMANN DISEASE | NATURAL-HISTORY | CLINICAL NEUROLOGY | consensus statement | OUTCOME MEASURES | PEDIATRICS | spinal muscular atrophy | NONINVASIVE VENTILATION | Muscular Atrophy, Spinal - diagnosis | Postoperative Complications - etiology | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Postoperative Complications - prevention & control | Respiratory Insufficiency - etiology | Respiratory Paralysis - therapy | Respiratory Paralysis - physiopathology | Deglutition Disorders - therapy | Child Nutrition Disorders - etiology | Respiratory Paralysis - etiology | Child Nutrition Disorders - physiopathology | Gait Disorders, Neurologic - physiopathology | Child Nutrition Disorders - prevention & control | Deglutition Disorders - etiology | Child | Deglutition Disorders - physiopathology | Respiratory Insufficiency - physiopathology | Diagnosis, Differential | Gastrointestinal Diseases - therapy | Respiratory Insufficiency - therapy | Consensus | Gait Disorders, Neurologic - therapy | Muscular Atrophy, Spinal - therapy | Muscular Atrophy, Spinal - complications | Gait Disorders, Neurologic - etiology | Index Medicus
Standard of care | Consensus statement | Spinal muscular atrophy | COMMUNITY-ACQUIRED PNEUMONIA | LEAN BODY-MASS | HIP DISLOCATION | NEUROMUSCULAR DISORDERS | standard of care | RESPIRATORY-DISTRESS | FUNCTIONAL MOTOR SCALE | WERDNIG-HOFFMANN DISEASE | NATURAL-HISTORY | CLINICAL NEUROLOGY | consensus statement | OUTCOME MEASURES | PEDIATRICS | spinal muscular atrophy | NONINVASIVE VENTILATION | Muscular Atrophy, Spinal - diagnosis | Postoperative Complications - etiology | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Postoperative Complications - prevention & control | Respiratory Insufficiency - etiology | Respiratory Paralysis - therapy | Respiratory Paralysis - physiopathology | Deglutition Disorders - therapy | Child Nutrition Disorders - etiology | Respiratory Paralysis - etiology | Child Nutrition Disorders - physiopathology | Gait Disorders, Neurologic - physiopathology | Child Nutrition Disorders - prevention & control | Deglutition Disorders - etiology | Child | Deglutition Disorders - physiopathology | Respiratory Insufficiency - physiopathology | Diagnosis, Differential | Gastrointestinal Diseases - therapy | Respiratory Insufficiency - therapy | Consensus | Gait Disorders, Neurologic - therapy | Muscular Atrophy, Spinal - therapy | Muscular Atrophy, Spinal - complications | Gait Disorders, Neurologic - etiology | Index Medicus
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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
European Journal of Human Genetics, ISSN 1018-4813, 04/2017, Volume 25, Issue 4, pp. 416 - 422
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene...
ANEUPLOIDY | SINGLE-GENE DISORDERS | MATERNAL PLASMA | PREGNANCIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | GENETICS & HEREDITY | SEX DETERMINATION | IMPLEMENTATION | CONGENITAL ADRENAL-HYPERPLASIA | FREE FETAL DNA | MOLECULAR ANALYSIS | Haplotypes | Muscular Atrophy, Spinal - diagnosis | Genetic Testing - standards | Humans | Male | Genetic Testing - methods | Case-Control Studies | Pregnancy | Muscular Atrophy, Spinal - genetics | Prenatal Diagnosis - standards | Pedigree | Sensitivity and Specificity | Survival of Motor Neuron 1 Protein - genetics | Female | Heterozygote | Polymorphism, Single Nucleotide | Prenatal Diagnosis - methods | Plasma | Laboratories | SMN protein | Fetuses | Licenses | Data processing | Heredity | Single-nucleotide polymorphism | Chromosome 5 | Down syndrome | Conversion | Hereditary diseases | Spinal muscular atrophy | Prenatal diagnosis | Genetic testing | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
ANEUPLOIDY | SINGLE-GENE DISORDERS | MATERNAL PLASMA | PREGNANCIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | GENETICS & HEREDITY | SEX DETERMINATION | IMPLEMENTATION | CONGENITAL ADRENAL-HYPERPLASIA | FREE FETAL DNA | MOLECULAR ANALYSIS | Haplotypes | Muscular Atrophy, Spinal - diagnosis | Genetic Testing - standards | Humans | Male | Genetic Testing - methods | Case-Control Studies | Pregnancy | Muscular Atrophy, Spinal - genetics | Prenatal Diagnosis - standards | Pedigree | Sensitivity and Specificity | Survival of Motor Neuron 1 Protein - genetics | Female | Heterozygote | Polymorphism, Single Nucleotide | Prenatal Diagnosis - methods | Plasma | Laboratories | SMN protein | Fetuses | Licenses | Data processing | Heredity | Single-nucleotide polymorphism | Chromosome 5 | Down syndrome | Conversion | Hereditary diseases | Spinal muscular atrophy | Prenatal diagnosis | Genetic testing | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
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Loading RightsMedical Journal of Australia, ISSN 0025-729X, 08/2018, Volume 209, Issue 4, pp. 147 - 148
Pediatric medicine | Environment and public health | Nervous system diseases | SMN2 | MEDICINE, GENERAL & INTERNAL | GENE | NATURAL-HISTORY | SMA | PCR | Muscular Atrophy, Spinal - diagnosis | Young Adult | Muscular Atrophy, Spinal - genetics | Humans | Muscular Atrophy, Spinal - therapy | Adolescent | Child, Preschool | Adult | Infant | Genetic Techniques | Child | Infant, Newborn | Index Medicus
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Loading RightsNeurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 884 - 885
Spinal muscular atrophy (SMA) is an anterior horn cell disease characterized by severe muscle atrophy and weakness,(1) traditionally divided into 4...
TRIAL | PHENYLBUTYRATE | FUNCTIONAL MOTOR SCALE | SMN1 | CLINICAL NEUROLOGY | Muscular Atrophy, Spinal - diagnosis | Female | Male | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Humans | Index Medicus | Abridged Index Medicus
TRIAL | PHENYLBUTYRATE | FUNCTIONAL MOTOR SCALE | SMN1 | CLINICAL NEUROLOGY | Muscular Atrophy, Spinal - diagnosis | Female | Male | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Humans | Index Medicus | Abridged Index Medicus
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Loading RightsNature biotechnology, ISSN 1087-0156, 08/2018, Volume 36, Issue 8, pp. 669 - 670
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | Genetic Therapy - legislation & jurisprudence | Oligonucleotides - therapeutic use | Infant, Newborn, Diseases - diagnosis | United States | Humans | Infant, Newborn, Diseases - genetics | Neonatal Screening | Drug Approval - legislation & jurisprudence | Infant, Newborn | United States Food and Drug Administration | Infants (Newborn) | Care and treatment | Gene therapy | Patient outcomes | Methods | Spinal muscular atrophy | Atrophy | Neonates
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Loading RightsMuscle & Nerve, ISSN 0148-639X, 11/2016, Volume 54, Issue 5, pp. 836 - 842
Introduction : The Six‐Minute Walk Test (6MWT) was adopted as a clinical outcome measure for ambulatory spinal muscular atrophy (SMA). However, a systematic...
clinical trials | spinal muscular atrophy | outcome measure | Six‐Minute Walk Test | validation | reliability | Six-Minute Walk Test | FATIGUE | FUNCTIONAL MOTOR SCALE | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | SMA-III | MUSCLE STRENGTH | DYSTROPHY | END-POINTS | GO TEST | CLINICALLY IMPORTANT DIFFERENCE | ENZYME REPLACEMENT THERAPY | Muscular Atrophy, Spinal - diagnosis | Reproducibility of Results | Humans | Middle Aged | Child, Preschool | Male | Walking - physiology | Young Adult | Adolescent | Adult | Female | Walk Test - methods | Child | Muscular Atrophy, Spinal - physiopathology | Gait Disorders, Neurologic - etiology | Spinal muscular atrophy | Validity | Questionnaires | Validation studies | Index Medicus
clinical trials | spinal muscular atrophy | outcome measure | Six‐Minute Walk Test | validation | reliability | Six-Minute Walk Test | FATIGUE | FUNCTIONAL MOTOR SCALE | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | SMA-III | MUSCLE STRENGTH | DYSTROPHY | END-POINTS | GO TEST | CLINICALLY IMPORTANT DIFFERENCE | ENZYME REPLACEMENT THERAPY | Muscular Atrophy, Spinal - diagnosis | Reproducibility of Results | Humans | Middle Aged | Child, Preschool | Male | Walking - physiology | Young Adult | Adolescent | Adult | Female | Walk Test - methods | Child | Muscular Atrophy, Spinal - physiopathology | Gait Disorders, Neurologic - etiology | Spinal muscular atrophy | Validity | Questionnaires | Validation studies | Index Medicus
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Loading RightsEuropean Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1554 - 1557
Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0...
SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | Hybrids | Chromosome rearrangements | Chromosomes | Genetic counselling | SMN protein | Spinal muscular atrophy | Index Medicus
SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | Hybrids | Chromosome rearrangements | Chromosomes | Genetic counselling | SMN protein | Spinal muscular atrophy | Index Medicus
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Loading RightsAmerican Journal of Medical Genetics, Part A, ISSN 1552-4825, 2010, Volume 152, Issue 7, pp. 1608 - 1616
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting...
Newborn screening | SMN2 | SMN1 | Carrier testing | Spinal muscular atrophy | POPULATION | SMA | PHENOTYPE | VALPROIC ACID | NATURAL-HISTORY | IDENTIFICATION | QUANTITATIVE-ANALYSIS | RISK ASSESSMENT | GENE | GENETICS & HEREDITY | spinal muscular atrophy | carrier testing | newborn screening | SMN2 COPY NUMBER | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | Health Surveys | Humans | Survival of Motor Neuron 1 Protein - genetics | Fluorescence | Genotype | Heterozygote | Neonatal Screening | Infant, Newborn | Index Medicus | neuromuscular system | Motor neurons | Neonates | Cell survival | Prenatal diagnosis | Exons | SMN protein | Clinical trials | Mutation | Genetic screening | Hereditary diseases
Newborn screening | SMN2 | SMN1 | Carrier testing | Spinal muscular atrophy | POPULATION | SMA | PHENOTYPE | VALPROIC ACID | NATURAL-HISTORY | IDENTIFICATION | QUANTITATIVE-ANALYSIS | RISK ASSESSMENT | GENE | GENETICS & HEREDITY | spinal muscular atrophy | carrier testing | newborn screening | SMN2 COPY NUMBER | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | Health Surveys | Humans | Survival of Motor Neuron 1 Protein - genetics | Fluorescence | Genotype | Heterozygote | Neonatal Screening | Infant, Newborn | Index Medicus | neuromuscular system | Motor neurons | Neonates | Cell survival | Prenatal diagnosis | Exons | SMN protein | Clinical trials | Mutation | Genetic screening | Hereditary diseases
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Loading RightsBMC Genomics, ISSN 1471-2164, 06/2018, Volume 19, Issue 1, pp. 485 - 485
Background: Copy number variation (CNV) has been implicated in the genetics of multiple human diseases. Spinal muscular atrophy (SMA) and 22q11.2 deletion...
22q11.2 deletion syndrome | Copy number variation | High-resolution melting | Spinal muscular atrophy | SMA | CARRIERS | SINGLE NUCLEOTIDE | GENOME | GENE SMN1 | COPY-NUMBER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PCR | PRENATAL-DIAGNOSIS | Muscular Atrophy, Spinal - diagnosis | Chromosomes, Human, Pair 22 - genetics | Muscular Atrophy, Spinal - genetics | Humans | Adaptor Proteins, Signal Transducing - genetics | Clathrin Heavy Chains - genetics | Minor Histocompatibility Antigens - genetics | Survival of Motor Neuron 1 Protein - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Phosphotransferases (Alcohol Group Acceptor) - genetics | DNA Copy Number Variations - genetics | DiGeorge Syndrome - genetics | Usage | Deoxyribonucleotides | Copy number variations | Analysis | Genetic aspects | Diagnosis | Medical screening | High resolution | Melting | Laboratories | Copy number | Genomics | Genes | SMN protein | Genomes | Genetic diversity | Patients | Diseases | Polymerase chain reaction | Atrophy | Genetic counseling | Clonal deletion | Deletion | Chromosome 22 | Genetics | Software | Genetic testing | Deoxyribonucleic acid--DNA | Index Medicus
22q11.2 deletion syndrome | Copy number variation | High-resolution melting | Spinal muscular atrophy | SMA | CARRIERS | SINGLE NUCLEOTIDE | GENOME | GENE SMN1 | COPY-NUMBER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | PCR | PRENATAL-DIAGNOSIS | Muscular Atrophy, Spinal - diagnosis | Chromosomes, Human, Pair 22 - genetics | Muscular Atrophy, Spinal - genetics | Humans | Adaptor Proteins, Signal Transducing - genetics | Clathrin Heavy Chains - genetics | Minor Histocompatibility Antigens - genetics | Survival of Motor Neuron 1 Protein - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Phosphotransferases (Alcohol Group Acceptor) - genetics | DNA Copy Number Variations - genetics | DiGeorge Syndrome - genetics | Usage | Deoxyribonucleotides | Copy number variations | Analysis | Genetic aspects | Diagnosis | Medical screening | High resolution | Melting | Laboratories | Copy number | Genomics | Genes | SMN protein | Genomes | Genetic diversity | Patients | Diseases | Polymerase chain reaction | Atrophy | Genetic counseling | Clonal deletion | Deletion | Chromosome 22 | Genetics | Software | Genetic testing | Deoxyribonucleic acid--DNA | Index Medicus
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