Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 10
Results: 48
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
- By:
- Publication type:
- Article
Health care transition for individuals with Down syndrome: A needs assessment.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3019, doi. 10.1002/ajmg.a.62403
- By:
- Publication type:
- Article
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3012, doi. 10.1002/ajmg.a.62402
- By:
- Publication type:
- Article
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3161, doi. 10.1002/ajmg.a.62401
- By:
- Publication type:
- Article
Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
- By:
- Publication type:
- Article
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3005, doi. 10.1002/ajmg.a.62398
- By:
- Publication type:
- Article
Severe diarrhea in a 10‐year‐old girl with Aicardi–Goutières syndrome due to IFIH1 gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3146, doi. 10.1002/ajmg.a.62397
- By:
- Publication type:
- Article
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2995, doi. 10.1002/ajmg.a.62396
- By:
- Publication type:
- Article
Singleton‐Merten syndrome: A rare cause of femoral head necrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3170, doi. 10.1002/ajmg.a.62395
- By:
- Publication type:
- Article
Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2986, doi. 10.1002/ajmg.a.62393
- By:
- Publication type:
- Article
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2959, doi. 10.1002/ajmg.a.62383
- By:
- Publication type:
- Article
Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3136, doi. 10.1002/ajmg.a.62391
- By:
- Publication type:
- Article
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3129, doi. 10.1002/ajmg.a.62389
- By:
- Publication type:
- Article
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3122, doi. 10.1002/ajmg.a.62386
- By:
- Publication type:
- Article
Expansion of the clinical phenotype of GALE deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3118, doi. 10.1002/ajmg.a.62384
- By:
- Publication type:
- Article
L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2976, doi. 10.1002/ajmg.a.62392
- By:
- Publication type:
- Article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
- By:
- Publication type:
- Article
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3099, doi. 10.1002/ajmg.a.62376
- By:
- Publication type:
- Article
Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3167, doi. 10.1002/ajmg.a.62380
- By:
- Publication type:
- Article
Medical genetics training in the COVID‐19 era: A resident's perspective.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2861, doi. 10.1002/ajmg.a.62379
- Publication type:
- Article
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3104, doi. 10.1002/ajmg.a.62378
- By:
- Publication type:
- Article
Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3111, doi. 10.1002/ajmg.a.62382
- By:
- Publication type:
- Article
Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2951, doi. 10.1002/ajmg.a.62381
- By:
- Publication type:
- Article
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2929, doi. 10.1002/ajmg.a.62375
- By:
- Publication type:
- Article
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2922, doi. 10.1002/ajmg.a.62372
- By:
- Publication type:
- Article
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3092, doi. 10.1002/ajmg.a.62371
- By:
- Publication type:
- Article
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3083, doi. 10.1002/ajmg.a.62370
- By:
- Publication type:
- Article
Clinical spectrum of individuals with de novo EBF3 variants or deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2913, doi. 10.1002/ajmg.a.62369
- By:
- Publication type:
- Article
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2903, doi. 10.1002/ajmg.a.62368
- By:
- Publication type:
- Article
PAMI syndrome: A rare cause that can be easily misdiagnosed.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3074, doi. 10.1002/ajmg.a.62367
- By:
- Publication type:
- Article
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3068, doi. 10.1002/ajmg.a.62365
- By:
- Publication type:
- Article
Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3062, doi. 10.1002/ajmg.a.62364
- By:
- Publication type:
- Article
HECW2‐related disorder in four Japanese patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2895, doi. 10.1002/ajmg.a.62363
- By:
- Publication type:
- Article
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
- By:
- Publication type:
- Article
An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2888, doi. 10.1002/ajmg.a.62360
- By:
- Publication type:
- Article
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2863, doi. 10.1002/ajmg.a.62359
- By:
- Publication type:
- Article
Corrigendum Re: "Persistence of müllerian duct structures in a genetic male with distal monosomy 10q. Am J Med Genet A. 2015 Apr;167A(4):791–6. Doi:10.1002/ajmg.a.37014".
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3176, doi. 10.1002/ajmg.a.62358
- Publication type:
- Article
New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3053, doi. 10.1002/ajmg.a.62357
- By:
- Publication type:
- Article
Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2878, doi. 10.1002/ajmg.a.62355
- By:
- Publication type:
- Article
Expanding the clinical spectrum in trichohepatoenteric syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2873, doi. 10.1002/ajmg.a.62354
- By:
- Publication type:
- Article
Juvenile xanthogranuloma in Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3048, doi. 10.1002/ajmg.a.62353
- By:
- Publication type:
- Article
Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3042, doi. 10.1002/ajmg.a.62346
- By:
- Publication type:
- Article
Cover Image, Volume 185A, Number 10, October 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. i, doi. 10.1002/ajmg.a.61702
- Publication type:
- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2859, doi. 10.1002/ajmg.a.61701
- Publication type:
- Article
Tabula Sapiens: An Atlas of Single‐Cell Gene Expression.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2857, doi. 10.1002/ajmg.a.61700
- Publication type:
- Article
Optogenetics Shows Promise in Landmark Study.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2856, doi. 10.1002/ajmg.a.61699
- Publication type:
- Article
Publication schedule for 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2855, doi. 10.1002/ajmg.a.61698
- Publication type:
- Article
Table of Contents, Volume 185A, Number 10, October 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2849, doi. 10.1002/ajmg.a.61697
- Publication type:
- Article