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1
المؤلفون: Tali Peylan, Idan Segal, Loren Levi, Jennifer M.S. Sucre, Haim Bassan
المصدر: Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 28(3)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, animal structures, Muscle Hypotonia, Developmental Disabilities, Physical Therapy, Sports Therapy and Rehabilitation, Gestational Age, Central hypotonia, 03 medical and health sciences, 0302 clinical medicine, Child Development, 030225 pediatrics, medicine, Humans, Motor skill, Physical Therapy Modalities, business.industry, Gestational age, Infant, musculoskeletal system, Child development, body regions, Appendicular hypotonia, embryonic structures, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery, Neonatal neurology
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2
المؤلفون: Mythily Ganapathi, Volkan Okur, Wendy K. Chung, Ashley Wilson
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Adolescent, Valine-tRNA Ligase, Developmental Disabilities, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Missense mutation, Exome, appendicular hypotonia, Child, Gene, Alleles, Likely pathogenic, Exome sequencing, Cortical atrophy, premature birth following premature rupture of fetal membranes, Genetics, business.industry, Siblings, absent speech, General Medicine, medicine.disease, Pedigree, intellectual disability, moderate, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, business, Rapid Communication, 030217 neurology & neurosurgery
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3
المؤلفون: Patricia K. Donahoe, Joan M. Stoler, Natalia T Leach
المصدر: New England Journal of Medicine. 351:2319-2326
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, General Medicine, medicine.disease, Surgery, Appendicular hypotonia, Case records, Hypospadias, Failure to thrive, Vomiting, Medicine, General hospital, medicine.symptom, business, Dysmorphic facies
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4
المؤلفون: Janet Malcolmson, Justine Coppinger, Reid J. Robison, Miriam H. Meisler, Robert Kleyner, Lesa Nelson, Kenneth D. Ward, Kai Wang, Gholson J. Lyon, Whit Adams, David Tegay
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, 0301 basic medicine, dysphagia, infantile axial hypotonia, gastroesophageal reflux, blepharospasm, generalized tonic seizures, Biology, medicine.disease_cause, Bioinformatics, broad forehead, full cheeks, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, developmental stagnation at onset of seizures, medicine, neck muscle weakness, Missense mutation, appendicular hypotonia, intellectual disability, severe, obstructive sleep apnea, Exome sequencing, Bulbar palsy, G alpha subunit, generalized tonic-clonic seizures on awakening, Mutation, hypoxemia, respiratory difficulties, absent speech, gingival overgrowth, General Medicine, no social interaction, gastrostomy tube feeding in infancy, medicine.disease, failure to thrive in infancy, developmental regression, epileptic encephalopathy, 030104 developmental biology, bulbar palsy, exaggerated startle response, medicine.symptom, Infantile axial hypotonia, Developmental regression, action tremor, 030217 neurology & neurosurgery
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5
المصدر: Neurology. 80:e130-e130
مصطلحات موضوعية: Hypopigmentation, Head circumference, Appendicular hypotonia, Percentile, business.industry, Child, Preschool, Humans, Medicine, Female, Neurology (clinical), Anatomy, business, Hypopigmented iris