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1. Neonatal Hypotonia
by Sparks, Susan E
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
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2. Full Text Congenital Hypotonia in Toddlerhood
by Steiner, Naomi and Torres, Alcy and Reddy, Arathi and Augustyn, Marilyn
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
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3. Full Text Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia
by Lawerman, Tjitske F and Brandsma, Rick and Maurits, Natalia M and Martinez‐Manzanera, Octavio and Verschuuren‐Bemelmans, Corien C and Lunsing, Roelineke J and Brouwer, Oebo F and Kremer, Hubertus PH and Sival, Deborah A
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
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4. Full Text Neonatal hypotonia
Journal of paediatrics and child health, ISSN 1034-4810, 04/2017, Volume 53, Issue 4, pp. 425 - 425
Neuroimaging | Hyperglycinemia, Nonketotic - diagnosis | Muscle Hypotonia | Humans | Infant, Newborn | Infant, Newborn, Diseases | Infants (Newborn) | Index Medicus
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5. Full Text Evaluation of the pediatric patient with hypotonia: don’t forget the hypotonia‐cystinuria syndrome
by Jaeken, Jaak and Creemers, John and Régal, Luc
Developmental medicine and child neurology, ISSN 0012-1622, 03/2012, Volume 54, Issue 3, pp. 288 - 288
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnosis | Index Medicus
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6. Full Text Neonatal hypotonia and neuromuscular conditions
by Mercuri, Eugenio and Pera, Maria Carmela and Brogna, Claudia
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
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7. Full Text A Child With Self-Improving Hypotonia: Look at the Skin
by Conversano, Ester and Agrusti, Anna and Conti, Rosaura and Magnolato, Andrea and Bruno, Irene and Colombi, Marina and Barbi, Egidio and Faletra, Flavio
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
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8. Full Text Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet
by Waldrop, Megan A and Boue, Daniel R and Sites, Emily and Flanigan, Kevin M and Shell, Richard
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
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9. Full Text Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
by Harel, Tamar and Yesil, Gozde and Bayram, Yavuz and Coban-Akdemir, Zeynep and Charng, Wu-Lin and Karaca, Ender and Al Asmari, Ali and Eldomery, Mohammad K and Hunter, Jill V and Jhangiani, Shalini N and Rosenfeld, Jill A and Pehlivan, Davut and El-Hattab, Ayman W and Saleh, Mohammed A and LeDuc, Charles A and Muzny, Donna and Boerwinkle, Eric and Gibbs, Richard A and Chung, Wendy K and Yang, Yaping and Belmont, John W and Lupski, James R and Baylor-Hopkins Center for Mendelian Genomics and Baylor-Hopkins Ctr Mendelian Genom
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
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10. Full Text Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
by Shuvarikov, Andrey and Campbell, Ian M and Dittwald, Piotr and Neill, Nicholas J and Bialer, Martin G and Moore, Christine and Wheeler, Patricia G and Wallace, Stephanie E and Hannibal, Mark C and Murray, Michael F and Giovanni, Monica A and Terespolsky, Deborah and Sodhi, Sandi and Cassina, Matteo and Viskochil, David and Moghaddam, Billur and Herman, Kristin and Brown, Chester W and Beck, Christine R and Gambin, Anna and Cheung, Sau Wai and Patel, Ankita and Lamb, Allen N and Shaffer, Lisa G and Ellison, Jay W and Ravnan, J. Britt and Stankiewicz, Paweł and Rosenfeld, Jill A
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
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11. Full Text Prevalence of Prader–Willi Syndrome among Infants with Hypotonia
by Tuysuz, Beyhan, MD and Kartal, Nuray, MS and Erener-Ercan, Tugba, MD and Guclu-Geyik, Filiz, PhD and Vural, Mehmet, MD and Perk, Yildiz, MD and Erçal, Derya, MD and Erginel-Unaltuna, Nihan, PhD
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
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12. Full Text Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
by Nguyen, Thi Tuyet Mai and Murakami, Yoshiko and Mobilio, Sabrina and Niceta, Marcello and Zampino, Giuseppe and Philippe, Christophe and Moutton, Sébastien and Zaki, Maha S and James, Kiely N and Musaev, Damir and Mu, Weiyi and Baranano, Kristin and Nance, Jessica R and Rosenfeld, Jill A and Braverman, Nancy and Ciolfi, Andrea and Millan, Francisca and Person, Richard E and Bruel, Ange-Line and Thauvin-Robinet, Christel and Ververi, Athina and DeVile, Catherine and Male, Alison and Efthymiou, Stephanie and Maroofian, Reza and Houlden, Henry and Maqbool, Shazia and Rahman, Fatima and Baratang, Nissan V and Rousseau, Justine and St-Denis, Anik and Elrick, Matthew J and Anselm, Irina and Rodan, Lance H and Tartaglia, Marco and Gleeson, Joseph and Kinoshita, Taroh and Campeau, Philippe M
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
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13. Full Text Clinical Reasoning: A neonate with micrognathia and hypotonia
by Vawter-Lee, Marissa M and Seals, Shannon S and Thomas, Cameron W and Venkatesan, Charu
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
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