Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 7
Results: 48
Cover Image, Volume 182A, Number 7, July 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. i, doi. 10.1002/ajmg.a.61500
- Publication type:
- Article
Cover Image, Volume 182A, Number 7, July 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. i, doi. 10.1002/ajmg.a.61500
- Publication type:
- Article
Cover Image, Volume 182A, Number 7, July 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. i, doi. 10.1002/ajmg.a.61500
- Publication type:
- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1551, doi. 10.1002/ajmg.a.61727
- Publication type:
- Article
Absence of Functional ACTL6B Gene is Potential Cause of Recessive Autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1549, doi. 10.1002/ajmg.a.61726
- Publication type:
- Article
Going forward in a new world.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1553, doi. 10.1002/ajmg.a.61715
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- Article
The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1735, doi. 10.1002/ajmg.a.61636
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- Publication type:
- Article
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1725, doi. 10.1002/ajmg.a.61635
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- Article
Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1716, doi. 10.1002/ajmg.a.61631
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- Publication type:
- Article
Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1704, doi. 10.1002/ajmg.a.61627
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- Publication type:
- Article
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1697, doi. 10.1002/ajmg.a.61625
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- Publication type:
- Article
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1812, doi. 10.1002/ajmg.a.61624
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- Publication type:
- Article
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1807, doi. 10.1002/ajmg.a.61621
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- Publication type:
- Article
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1562, doi. 10.1002/ajmg.a.61619
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- Publication type:
- Article
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1801, doi. 10.1002/ajmg.a.61618
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- Publication type:
- Article
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1572, doi. 10.1002/ajmg.a.61617
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- Publication type:
- Article
SMG9‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1829, doi. 10.1002/ajmg.a.61616
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- Publication type:
- Article
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
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- Publication type:
- Article
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1796, doi. 10.1002/ajmg.a.61614
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- Publication type:
- Article
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1690, doi. 10.1002/ajmg.a.61611
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- Publication type:
- Article
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1681, doi. 10.1002/ajmg.a.61610
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- Publication type:
- Article
Long‐term follow‐up of an individual with ITPR1‐related disorder.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1846, doi. 10.1002/ajmg.a.61609
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- Publication type:
- Article
Further delineation of Basel‐Vanagaite‐Smirin‐Yosef syndrome: Report of three patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1785, doi. 10.1002/ajmg.a.61603
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- Publication type:
- Article
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1664, doi. 10.1002/ajmg.a.61607
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- Publication type:
- Article
Eye tracking as an objective measure of hyperphagia in children with Prader‐Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1655, doi. 10.1002/ajmg.a.61606
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- Publication type:
- Article
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1776, doi. 10.1002/ajmg.a.61600
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- Publication type:
- Article
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1791, doi. 10.1002/ajmg.a.61605
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- Publication type:
- Article
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1673, doi. 10.1002/ajmg.a.61608
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The Society for Craniofacial Genetics and Developmental Biology 42nd Annual Meeting.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1555, doi. 10.1002/ajmg.a.61602
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CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1780, doi. 10.1002/ajmg.a.61601
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- Article
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1761, doi. 10.1002/ajmg.a.61594
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- Article
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1832, doi. 10.1002/ajmg.a.61604
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- Publication type:
- Article
Shortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1631, doi. 10.1002/ajmg.a.61598
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- Publication type:
- Article
Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1767, doi. 10.1002/ajmg.a.61597
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- Publication type:
- Article
Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis‐proneness symptoms in youth with chromosome 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1615, doi. 10.1002/ajmg.a.61596
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- Publication type:
- Article
Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1754, doi. 10.1002/ajmg.a.61593
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- Publication type:
- Article
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
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- Publication type:
- Article
Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1824, doi. 10.1002/ajmg.a.61592
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- Publication type:
- Article
Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1592, doi. 10.1002/ajmg.a.61584
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- Publication type:
- Article
Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1608, doi. 10.1002/ajmg.a.61590
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- Publication type:
- Article
Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1601, doi. 10.1002/ajmg.a.61589
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- Article
Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1815, doi. 10.1002/ajmg.a.61588
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- Article
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1750, doi. 10.1002/ajmg.a.61587
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- Article
Aortic dilation in Sotos syndrome: An underestimated feature?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1819, doi. 10.1002/ajmg.a.61591
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- Publication type:
- Article
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C‐terminal amino acid sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1744, doi. 10.1002/ajmg.a.61579
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- Article
Lipoplexes Could be Alternative to Viral Vectors in Gene Therapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1548, doi. 10.1002/ajmg.a.61241
- Publication type:
- Article
Publication schedule for 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1547, doi. 10.1002/ajmg.a.61237
- Publication type:
- Article
Table of Contents, Volume 182A, Number 7, July 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1541, doi. 10.1002/ajmg.a.61236
- Publication type:
- Article