Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 4
Results: 46
Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1204, doi. 10.1002/ajmg.a.62640
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Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1214, doi. 10.1002/ajmg.a.62641
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Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1193, doi. 10.1002/ajmg.a.62639
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The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1184, doi. 10.1002/ajmg.a.62638
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Delayed diagnosis and racial bias in children with genetic conditions.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1118, doi. 10.1002/ajmg.a.62626
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Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1311, doi. 10.1002/ajmg.a.62636
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Family perspectives on gaps in health care for people with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1160, doi. 10.1002/ajmg.a.62635
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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1307, doi. 10.1002/ajmg.a.62634
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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1293, doi. 10.1002/ajmg.a.62629
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Growth charts for Mexican children with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1170, doi. 10.1002/ajmg.a.62637
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Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1341, doi. 10.1002/ajmg.a.62621
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- Article
The diagnostic utility of exome‐based carrier screening in families with a positive family history.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1323, doi. 10.1002/ajmg.a.62633
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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1299, doi. 10.1002/ajmg.a.62631
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Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1088, doi. 10.1002/ajmg.a.62619
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Congenital heart defects in molecularly confirmed KBG syndrome patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1317, doi. 10.1002/ajmg.a.62630
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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627
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Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1142, doi. 10.1002/ajmg.a.62628
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- Article
Healthcare utilization among youth with Ehlers–Danlos syndrome hypermobile type.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1109, doi. 10.1002/ajmg.a.62625
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FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1334, doi. 10.1002/ajmg.a.62624
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Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1287, doi. 10.1002/ajmg.a.62622
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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1102, doi. 10.1002/ajmg.a.62623
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Corrigendum Presacral Neuroendocrine Tumors Associated with the Currarino Syndrome. Am J Med Genet A. 2021;185(5):1582–1588. Doi:10.1002/ajmg.a.62145.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1340, doi. 10.1002/ajmg.a.62618
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Corrigendum The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort. Am J Med Genet A. 2021;185(12):3793–3803. Doi:10.1002/ajmg.a.62452.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1339, doi. 10.1002/ajmg.a.62617
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- Article
Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1083, doi. 10.1002/ajmg.a.62616
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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1075, doi. 10.1002/ajmg.a.62614
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Craniosynostosis is a feature of Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
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Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1259, doi. 10.1002/ajmg.a.62612
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Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1065, doi. 10.1002/ajmg.a.62611
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A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1251, doi. 10.1002/ajmg.a.62610
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Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1233, doi. 10.1002/ajmg.a.62603
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Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1263, doi. 10.1002/ajmg.a.62613
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A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1245, doi. 10.1002/ajmg.a.62609
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Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1239, doi. 10.1002/ajmg.a.62608
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Use of the Vineland‐3, a measure of adaptive functioning, in CLN3.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1056, doi. 10.1002/ajmg.a.62607
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Improving survival in patients with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1048, doi. 10.1002/ajmg.a.62605
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Corrigendum Parental mosaicism in de novo neurodevelopmental diseases. Am J Med Genet A. 2021;185A(7):2119–2125. Doi:10.1002/ajmg.a.62174.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1338, doi. 10.1002/ajmg.a.62606
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- Article
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1029, doi. 10.1002/ajmg.a.62601
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An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1040, doi. 10.1002/ajmg.a.62604
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Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1226, doi. 10.1002/ajmg.a.62602
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Cover Image, Volume 188A, Number 4, April 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. i, doi. 10.1002/ajmg.a.62288
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- Article
Implementation Strategies to Address Suboptimal Genetic Referral Practices.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1025, doi. 10.1002/ajmg.a.62286
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- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1027, doi. 10.1002/ajmg.a.62287
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- Article
Publication schedule for 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1023, doi. 10.1002/ajmg.a.62284
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- Article
Predictive Model Detects Candidates for Genetic Testing.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1024, doi. 10.1002/ajmg.a.62285
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- Article
Table of Contents, Volume 188A, Number 4, April 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1017, doi. 10.1002/ajmg.a.62283
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- Article