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Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case report.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3550, doi. 10.1002/ajmg.a.62973
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- Article
Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3567, doi. 10.1002/ajmg.a.62977
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- Article
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
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- Article
Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3569, doi. 10.1002/ajmg.a.62975
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Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3482, doi. 10.1002/ajmg.a.62974
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- Article
TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
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- Article
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3563, doi. 10.1002/ajmg.a.62971
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- Article
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3448, doi. 10.1002/ajmg.a.62962
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- Article
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
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- Article
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3540, doi. 10.1002/ajmg.a.62966
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- Article
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3546, doi. 10.1002/ajmg.a.62969
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- Article
The perinatal phenotype of Troyer syndrome: Case report and literature review.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3558, doi. 10.1002/ajmg.a.62970
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- Article
The role of the University of Padua medical school in the study of conjoined twins between 18th and early 19th century.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3423, doi. 10.1002/ajmg.a.62938
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- Article
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3463, doi. 10.1002/ajmg.a.62968
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- Article
Underrepresentation of the term cerebral palsy in clinical genetics databases.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3555, doi. 10.1002/ajmg.a.62930
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- Article
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3535, doi. 10.1002/ajmg.a.62964
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3387, doi. 10.1002/ajmg.a.62335
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- Article
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3505, doi. 10.1002/ajmg.a.62926
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- Article
Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3531, doi. 10.1002/ajmg.a.62953
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- Article
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3525, doi. 10.1002/ajmg.a.62951
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- Article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
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- Article
The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3416, doi. 10.1002/ajmg.a.62920
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Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3401, doi. 10.1002/ajmg.a.62904
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Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3389, doi. 10.1002/ajmg.a.62899
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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3510, doi. 10.1002/ajmg.a.62929
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Extra X or Y Chromosome may put Men at Higher Risk for Several Conditions.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3385, doi. 10.1002/ajmg.a.62334
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- Article
GnRH Therapy may Improve Cognitive Function in Down Syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3384, doi. 10.1002/ajmg.a.62333
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- Article
Publication schedule for 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3383, doi. 10.1002/ajmg.a.62332
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- Article
Table of Contents, Volume 188A, Number 12 December 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3379, doi. 10.1002/ajmg.a.62331
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- Article