UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
Clinics in perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. 363 - 371
Hypotonia | Congenital | Myotonia | Weakness | Muscular dystrophy | Syndrome | Pediatrics | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Diagnosis, Differential | Muscle Hypotonia - genetics | Humans | Genetic Testing - methods | Infant, Newborn | Muscle Hypotonia - congenital | Muscle Hypotonia - diagnosis
Journal Article
Journal of developmental and behavioral pediatrics, ISSN 0196-206X, 09/2017, Volume 38, Issue 7, pp. 556 - 557
Pediatrics | Social Sciences | Life Sciences & Biomedicine | Behavioral Sciences | Psychology | Psychology, Developmental | Science & Technology | Muscle Hypotonia - complications | Developmental Disabilities - etiology | Humans | Infant | Male | Developmental Disabilities - diagnosis | Muscle Hypotonia - congenital | Muscle Hypotonia - diagnosis | Early intervention | Birth defects | Muscle function | Child development | Index Medicus
Journal Article
Developmental medicine and child neurology, ISSN 0012-1622, 01/2020, Volume 62, Issue 1, pp. 75 - 82
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Ataxia - physiopathology | Diagnosis, Differential | Humans | Child, Preschool | Male | Ataxia - diagnosis | Muscle Hypotonia - diagnosis | Phenotype | Muscle Hypotonia - physiopathology | Adolescent | Age of Onset | Female | Motor Skills Disorders - physiopathology | Child | Motor Skills Disorders - diagnosis | Index Medicus | Original
Journal Article
Journal of paediatrics and child health, ISSN 1034-4810, 04/2017, Volume 53, Issue 4, pp. 425 - 425
Journal Article
Developmental medicine and child neurology, ISSN 0012-1622, 03/2012, Volume 54, Issue 3, pp. 288 - 288
Journal Article
2019, ISBN 9780444640291, Volume 162
Therapy | Muscular dystrophies | Myopathies | Congenital | Floppy infant | Spinal muscular atrophy | Infant, Newborn, Diseases - physiopathology | Muscle Hypotonia - genetics | Infant, Newborn, Diseases - diagnosis | Humans | Infant, Newborn, Diseases - therapy | Muscle Hypotonia - congenital | Muscle Hypotonia - diagnosis | Muscular Diseases - diagnosis | Pregnancy | Muscle Hypotonia - therapy | Molecular Diagnostic Techniques | Adult | Female | Infant, Newborn, Diseases - genetics | Muscular Diseases - congenital | Muscular Diseases - genetics | Muscular Diseases - therapy | Infant, Newborn
Book Chapter
The Journal of pediatrics, ISSN 0022-3476, 10/2020, Volume 225, pp. 269 - 270
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Peptidylprolyl Isomerase | Scoliosis - surgery | Contusions - etiology | Ehlers-Danlos Syndrome - genetics | Humans | Kyphosis - surgery | Infant | Consanguinity | Ehlers-Danlos Syndrome - diagnosis | Mutation | Muscle Hypotonia - etiology
Journal Article
Pediatric neurology, ISSN 0887-8994, 09/2017, Volume 74, pp. 11 - 14
Pierre Robin syndrome | Native American myopathy | hypotonia | malignant hyperthermia syndrome | congenital fiber type disproportion | congenital myopathy | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cleft Palate - diagnosis | Myotonia Congenita - therapy | Diagnosis, Differential | Micrognathism - therapy | Humans | Child, Preschool | Malignant Hyperthermia - complications | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - therapy | Micrognathism - etiology | Malignant Hyperthermia - therapy | Cleft Palate - therapy | Micrognathism - diagnosis | Myotonia Congenita - complications | Foot Deformities, Congenital - etiology | Malignant Hyperthermia - diagnosis | Cleft Palate - etiology | Cleft Palate - complications | Female | Muscle, Skeletal - pathology | Myotonia Congenita - diagnosis | Infant, Newborn | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 562 - 570
endoplasmic reticulum (ER)-membrane complex | intracellular transport | Whole-exome sequencing | EMC1 | inter-organellar communication | mitochondrial membrane | neurodegeneration | cerebellar atrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Endoplasmic Reticulum-Associated Degradation | Scoliosis - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Muscle Hypotonia - diagnosis | Genetic Variation | Atrophy - genetics | Female | Child | Developmental Disabilities - diagnosis | Amino Acid Sequence | Muscle Hypotonia - genetics | Genetic Association Studies | Protein Folding | Cerebellum - pathology | Proteins - genetics | Magnetic Resonance Imaging | Proteins - metabolism | Pedigree | Adolescent | Alleles | Atrophy - diagnosis | Heterozygote | Mutation | Scoliosis - diagnosis | Allelomorphism | Atrophy | Genetic aspects | Genetic variation | Scoliosis | Health aspects | Brain diseases | Genotype & phenotype | Mitochondria | Nuclear magnetic resonance--NMR | Protein folding | Index Medicus | Report
Journal Article
Human mutation, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1415 - 1423
microarray | microdeletion | 3q13 | NAHR | developmental delay | HERV‐H | recurrent | hypotonia | Microdeletion | HERV-H | Hypotonia | Recurrent | Microarray | Developmental delay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Breakpoints | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Developmental Disabilities - genetics | Endogenous Retroviruses - genetics | Muscle Hypotonia - diagnosis | Young Adult | Base Sequence | Facies | Adult | Female | Child | Developmental Disabilities - diagnosis | Gene Order | Chromosome Deletion | Muscle Hypotonia - genetics | Cognition Disorders - genetics | Syndrome | Cognition Disorders - diagnosis | Phenotype | Sequence Alignment | Comparative Genomic Hybridization | Adolescent | Chromosomes, Human, Pair 3 - genetics | Index Medicus
Journal Article
The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 5, pp. 1064 - 1067
Pediatrics | FISH | UPD | Fluorescent in situ hybridization | Uniparental disomy | Prader-Willi syndrome | PWS | Life Sciences & Biomedicine | Science & Technology | Prader-Willi Syndrome - epidemiology | Prader-Willi Syndrome - diagnosis | Sequence Deletion | Diagnosis, Differential | Genetic Testing | Prevalence | Humans | Child, Preschool | In Situ Hybridization, Fluorescence | Infant | Male | Prader-Willi Syndrome - complications | Muscle Hypotonia - etiology | DNA Methylation | Prader-Willi Syndrome - genetics | Female | Infant, Newborn | Infants | Prevalence studies (Epidemiology) | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2020, Volume 106, Issue 4, pp. 484 - 495
PIGK | transamidase | glycosylphosphatidylinositol (GPI) | GPI8 | inherited GPI deficiency disorders (IGDs) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Adhesion Molecules - genetics | Muscle Hypotonia - genetics | Humans | Male | Neurodevelopmental Disorders - genetics | Acyltransferases - genetics | Syndrome | Intellectual Disability - genetics | Cerebellar Diseases - genetics | Pedigree | Alleles | Epilepsy - genetics | Female | Genetic Variation - genetics | Nervous System Malformations - genetics | Abnormalities, Multiple - genetics | Atrophy | Complications and side effects | Genomic structural variations | Glycosylphosphatidylinositols | Analysis | Epilepsy | Child development deviations | Muscle hypotonia | Biosynthesis | Diagnosis | Methods | Developmental disabilities | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 02/2016, Volume 86, Issue 8, pp. e80 - e84
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Micrognathism - diagnosis | Muscle Hypotonia - complications | Diagnosis, Differential | Humans | Adult | Female | Infant, Newborn | Micrognathism - complications | Muscle Hypotonia - diagnosis | Index Medicus | Abridged Index Medicus | Resident and Fellow Section | 307 | 185
Journal Article