Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 3
Results: 41
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 723, doi. 10.1002/ajmg.a.62682
- Publication type:
- Article
Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1000, doi. 10.1002/ajmg.a.62600
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A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 970, doi. 10.1002/ajmg.a.62590
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Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 978, doi. 10.1002/ajmg.a.62599
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Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 878, doi. 10.1002/ajmg.a.62597
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Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 991, doi. 10.1002/ajmg.a.62596
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Further delineation of phenotypic spectrum of SCN2A‐related disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 858, doi. 10.1002/ajmg.a.62594
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8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 883, doi. 10.1002/ajmg.a.62598
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Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 847, doi. 10.1002/ajmg.a.62593
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Giant axonal neuropathy (GAN) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 836, doi. 10.1002/ajmg.a.62592
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Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1005, doi. 10.1002/ajmg.a.62591
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Intracranial venous malformation masquerading as a meningioma in PI3KCA‐related overgrowth spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 907, doi. 10.1002/ajmg.a.62570
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A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 900, doi. 10.1002/ajmg.a.62569
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Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 788, doi. 10.1002/ajmg.a.62579
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N‐Acetylcysteine provides limited efficacy as treatment option for skin picking in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 828, doi. 10.1002/ajmg.a.62589
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Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 818, doi. 10.1002/ajmg.a.62587
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Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 965, doi. 10.1002/ajmg.a.62586
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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 959, doi. 10.1002/ajmg.a.62584
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An ACVR1<sup>R375P</sup> pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 806, doi. 10.1002/ajmg.a.62585
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High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 953, doi. 10.1002/ajmg.a.62583
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Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 948, doi. 10.1002/ajmg.a.62582
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A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 941, doi. 10.1002/ajmg.a.62581
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Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 931, doi. 10.1002/ajmg.a.62580
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An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578
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Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5‐related disorders.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 896, doi. 10.1002/ajmg.a.62568
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De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 919, doi. 10.1002/ajmg.a.62576
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22q11.2 duplications: Expanding the clinical presentation.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 779, doi. 10.1002/ajmg.a.62577
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Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 768, doi. 10.1002/ajmg.a.62574
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Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 911, doi. 10.1002/ajmg.a.62575
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
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Dominant and recessive SLC12A2‐syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 996, doi. 10.1002/ajmg.a.62573
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- Publication type:
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Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 984, doi. 10.1002/ajmg.a.62571
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Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649–1665. Doi:10.1002/ajmg.a.62124".
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1015, doi. 10.1002/ajmg.a.62567
- Publication type:
- Article
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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Psychological predictors of advanced cancer patients' preferences for return of results from comprehensive tumor genomic profiling.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 725, doi. 10.1002/ajmg.a.62563
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Wide Variability in Clinician Practices for Interpreting Genetic Test Results.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 721, doi. 10.1002/ajmg.a.62280
- Publication type:
- Article
Gene Variants Identified for Fibromuscular Dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 720, doi. 10.1002/ajmg.a.62279
- Publication type:
- Article
Publication schedule for 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 719, doi. 10.1002/ajmg.a.62278
- Publication type:
- Article
Table of Contents, Volume 188A, Number 3, March 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 713, doi. 10.1002/ajmg.a.62277
- Publication type:
- Article