Found: 45
Select item for more details and to access through your institution.
Corrigendum: Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1647, doi. 10.1002/ajmg.a.62683
- Publication type:
- Article
Further delineation of SET‐related intellectual disability syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
- By:
- Publication type:
- Article
Caregivers evaluate independence in individuals with Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1526, doi. 10.1002/ajmg.a.62680
- By:
- Publication type:
- Article
Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1623, doi. 10.1002/ajmg.a.62679
- By:
- Publication type:
- Article
Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1515, doi. 10.1002/ajmg.a.62678
- By:
- Publication type:
- Article
Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1497, doi. 10.1002/ajmg.a.62677
- By:
- Publication type:
- Article
Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676
- By:
- Publication type:
- Article
Ear lobe creases: A novel phenotypic feature in KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1618, doi. 10.1002/ajmg.a.62675
- By:
- Publication type:
- Article
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1583, doi. 10.1002/ajmg.a.62674
- By:
- Publication type:
- Article
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1376, doi. 10.1002/ajmg.a.62672
- By:
- Publication type:
- Article
Strengths and challenging behaviors in children and adolescents with Prader‐Willi syndrome: Two sides to the coin.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1488, doi. 10.1002/ajmg.a.62671
- By:
- Publication type:
- Article
Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1435, doi. 10.1002/ajmg.a.62658
- By:
- Publication type:
- Article
Werner syndrome in a Lebanese family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1630, doi. 10.1002/ajmg.a.62654
- By:
- Publication type:
- Article
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1482, doi. 10.1002/ajmg.a.62670
- By:
- Publication type:
- Article
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1578, doi. 10.1002/ajmg.a.62669
- By:
- Publication type:
- Article
A SOX3 duplication and lumbosacral spina bifida in three generations.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1572, doi. 10.1002/ajmg.a.62668
- By:
- Publication type:
- Article
A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu‐Boycott‐Innes syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1568, doi. 10.1002/ajmg.a.62667
- By:
- Publication type:
- Article
Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1476, doi. 10.1002/ajmg.a.62666
- By:
- Publication type:
- Article
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1562, doi. 10.1002/ajmg.a.62665
- By:
- Publication type:
- Article
Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1639, doi. 10.1002/ajmg.a.62664
- By:
- Publication type:
- Article
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1464, doi. 10.1002/ajmg.a.62663
- By:
- Publication type:
- Article
Neuropsychiatric features of Prader–Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1457, doi. 10.1002/ajmg.a.62662
- By:
- Publication type:
- Article
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1448, doi. 10.1002/ajmg.a.62661
- By:
- Publication type:
- Article
SHORT syndrome in an adult Brazilian patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1635, doi. 10.1002/ajmg.a.62660
- By:
- Publication type:
- Article
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1443, doi. 10.1002/ajmg.a.62659
- By:
- Publication type:
- Article
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1420, doi. 10.1002/ajmg.a.62656
- By:
- Publication type:
- Article
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1426, doi. 10.1002/ajmg.a.62657
- By:
- Publication type:
- Article
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1407, doi. 10.1002/ajmg.a.62655
- By:
- Publication type:
- Article
Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1556, doi. 10.1002/ajmg.a.62653
- By:
- Publication type:
- Article
Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1396, doi. 10.1002/ajmg.a.62648
- By:
- Publication type:
- Article
Near complete deletion of KMT2D in a college student.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1550, doi. 10.1002/ajmg.a.62652
- By:
- Publication type:
- Article
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1545, doi. 10.1002/ajmg.a.62651
- By:
- Publication type:
- Article
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1368, doi. 10.1002/ajmg.a.62650
- By:
- Publication type:
- Article
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1612, doi. 10.1002/ajmg.a.62649
- By:
- Publication type:
- Article
Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1538, doi. 10.1002/ajmg.a.62647
- By:
- Publication type:
- Article
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
- By:
- Publication type:
- Article
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1626, doi. 10.1002/ajmg.a.62646
- By:
- Publication type:
- Article
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1384, doi. 10.1002/ajmg.a.62645
- By:
- Publication type:
- Article
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1355, doi. 10.1002/ajmg.a.62644
- By:
- Publication type:
- Article
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1607, doi. 10.1002/ajmg.a.62643
- By:
- Publication type:
- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1353, doi. 10.1002/ajmg.a.62293
- Publication type:
- Article
Table of Contents, Volume 188A, Number 5, May 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1343, doi. 10.1002/ajmg.a.62289
- Publication type:
- Article
ACMG Issues Guidance on Protecting Genomic Data.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1351, doi. 10.1002/ajmg.a.62292
- Publication type:
- Article
Wide Range of Outcomes with Different Types of Genetic Testing in Epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1350, doi. 10.1002/ajmg.a.62291
- Publication type:
- Article
Publication schedule for 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1349, doi. 10.1002/ajmg.a.62290
- Publication type:
- Article