Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 5
Results: 27
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 757, doi. 10.1002/ajmg.a.61128
- Publication type:
- Article
Cover Image, Volume 179A, Number 5, May 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. i, doi. 10.1002/ajmg.a.61129
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- Article
Variants in the transcriptional corepressor BCORL1 are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 870, doi. 10.1002/ajmg.a.61118
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- Article
Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 762, doi. 10.1002/ajmg.a.61107
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- Article
Female‐restricted syndromic intellectual disability in a patient from Thailand.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 758, doi. 10.1002/ajmg.a.61106
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- Article
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 857, doi. 10.1002/ajmg.a.61103
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- Article
Parents' perspective on having a child with Down Syndrome in France.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 770, doi. 10.1002/ajmg.a.61102
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- Article
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 852, doi. 10.1002/ajmg.a.61101
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- Article
Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 846, doi. 10.1002/ajmg.a.61100
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- Article
Endocannabinoid System Involved in Cognitive Disorders in Mouse Models of Down Syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 755, doi. 10.1002/ajmg.a.61099
- Publication type:
- Article
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 842, doi. 10.1002/ajmg.a.61096
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- Article
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 837, doi. 10.1002/ajmg.a.61095
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- Publication type:
- Article
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 797, doi. 10.1002/ajmg.a.61094
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- Article
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 832, doi. 10.1002/ajmg.a.61093
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- Article
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 827, doi. 10.1002/ajmg.a.61092
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- Article
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 792, doi. 10.1002/ajmg.a.61091
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- Publication type:
- Article
The Society for Craniofacial Genetics and Developmental Biology 41st Annual Meeting.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 864, doi. 10.1002/ajmg.a.61090
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- Publication type:
- Article
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 782, doi. 10.1002/ajmg.a.61089
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Klippel–Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 862, doi. 10.1002/ajmg.a.61087
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Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 822, doi. 10.1002/ajmg.a.61079
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- Article
Retinoic acid receptor beta variant‐related colonic hypoganglionosis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 817, doi. 10.1002/ajmg.a.61078
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- Publication type:
- Article
Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 813, doi. 10.1002/ajmg.a.61076
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 803, doi. 10.1002/ajmg.a.61074
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- Publication type:
- Article
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 808, doi. 10.1002/ajmg.a.61075
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Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 754, doi. 10.1002/ajmg.a.40447
- Publication type:
- Article
Publication schedule for 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 753, doi. 10.1002/ajmg.a.40446
- Publication type:
- Article
Table of Contents, Volume 179A, Number 5, May 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 749, doi. 10.1002/ajmg.a.40445
- Publication type:
- Article