Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 1
Results: 48
The PORCN non‐Goltz spectrum (PONGOS): A new group of genetic disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 13, doi. 10.1002/ajmg.a.61984
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Corrigendum to "Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype. Am J Med Genet Part A. 2018;176(3):551‐559".
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 304, doi. 10.1002/ajmg.a.61944
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Clericuzio‐type poikiloderma with neutropenia in a patient from India.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 278, doi. 10.1002/ajmg.a.61943
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Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 261, doi. 10.1002/ajmg.a.61942
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Craniocervical junction issues after infancy in achondroplasia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 182, doi. 10.1002/ajmg.a.61941
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Clinical aspects of a large group of adults with Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 168, doi. 10.1002/ajmg.a.61940
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Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 256, doi. 10.1002/ajmg.a.61939
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Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 250, doi. 10.1002/ajmg.a.61938
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Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 242, doi. 10.1002/ajmg.a.61937
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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 157, doi. 10.1002/ajmg.a.61936
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Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 150, doi. 10.1002/ajmg.a.61935
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A new case of osteogenesis imperfecta type VIII and retinal detachment.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 238, doi. 10.1002/ajmg.a.61934
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Inherited intragenic PBX1 deletion: Expanding the phenotype.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 234, doi. 10.1002/ajmg.a.61932
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Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 141, doi. 10.1002/ajmg.a.61931
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Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 134, doi. 10.1002/ajmg.a.61930
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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 300, doi. 10.1002/ajmg.a.61929
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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 223, doi. 10.1002/ajmg.a.61921
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Waiting for a diagnosis in Rubinstein–Taybi: The journey from "ignorance is bliss" to the value of "a label".
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 105, doi. 10.1002/ajmg.a.61920
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Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 228, doi. 10.1002/ajmg.a.61928
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Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 286, doi. 10.1002/ajmg.a.61924
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A new family with epiphyseal chondrodysplasia type Miura.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 112, doi. 10.1002/ajmg.a.61923
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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 267, doi. 10.1002/ajmg.a.61922
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Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 282, doi. 10.1002/ajmg.a.61927
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 119, doi. 10.1002/ajmg.a.61926
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Novel GLI3 pathogenic variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 97, doi. 10.1002/ajmg.a.61919
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Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 274, doi. 10.1002/ajmg.a.61918
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The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 46, doi. 10.1002/ajmg.a.61904
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Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 219, doi. 10.1002/ajmg.a.61916
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Parenting stress in families of children with Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 83, doi. 10.1002/ajmg.a.61915
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Parenting a child with Marfan syndrome: Distress and everyday problems.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 50, doi. 10.1002/ajmg.a.61906
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Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 196, doi. 10.1002/ajmg.a.61905
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Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 90, doi. 10.1002/ajmg.a.61917
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Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 33, doi. 10.1002/ajmg.a.61903
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Outcome of 45,X fetuses with cystic hygroma: A systematic review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 26, doi. 10.1002/ajmg.a.61902
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Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914
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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 208, doi. 10.1002/ajmg.a.61913
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Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 73, doi. 10.1002/ajmg.a.61912
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 68, doi. 10.1002/ajmg.a.61911
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Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 203, doi. 10.1002/ajmg.a.61910
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The role of novel COQ8B mutations in glomerulopathy and related kidney defects.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 60, doi. 10.1002/ajmg.a.61909
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 15, doi. 10.1002/ajmg.a.61907
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De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 190, doi. 10.1002/ajmg.a.61901
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Cover Image, Volume 185A, Number 1, January 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. i, doi. 10.1002/ajmg.a.61643
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 11, doi. 10.1002/ajmg.a.61647
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- Article
Genetic Variants Account for About 14% of Cerebral Palsy Cases.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 9, doi. 10.1002/ajmg.a.61646
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Crispr Developers Win 2020 Nobel Prize for Chemistry.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 8, doi. 10.1002/ajmg.a.61645
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Publication schedule for 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 7, doi. 10.1002/ajmg.a.61644
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Table of Contents, Volume 185A, Number 1, January 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 1, doi. 10.1002/ajmg.a.61643
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- Article