Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 9
Results: 43
Cover Image, Volume 176A, Number 9, September 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1, doi. 10.1002/ajmg.a.40660
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1796, doi. 10.1002/ajmg.a.40648
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- Article
USP48 May Be Potential Therapeutic Target in Fanconi Anemia: Inactivation of USP48 reduced chromosomal instability of Fanconi anemia defective cells and highlights a role for this enzyme in controlling DNA repair.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1794, doi. 10.1002/ajmg.a.40522
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- Article
Mendelian Disease Genes More Prone to Copy Number Changes Than Previously Thought: Clinically relevant copy number variants are distinct from those that contribute to normal variation in human disease genes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1793, doi. 10.1002/ajmg.a.40521
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- Article
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1950, doi. 10.1002/ajmg.a.40484
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Studying Down syndrome recognition probabilities in Thai children with de‐identified computer‐aided facial analysis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1935, doi. 10.1002/ajmg.a.40483
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- Article
Multilineage ACTB mutation in a patient with fibro‐osseous maxillary lesion and pilocytic astrocytoma.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2037, doi. 10.1002/ajmg.a.40475
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Early inspirations from times gone by.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1797, doi. 10.1002/ajmg.a.40474
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- Article
Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1929, doi. 10.1002/ajmg.a.40473
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Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2024, doi. 10.1002/ajmg.a.40432
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- Article
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2017, doi. 10.1002/ajmg.a.40428
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Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2009, doi. 10.1002/ajmg.a.40427
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- Article
1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2004, doi. 10.1002/ajmg.a.40426
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Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1917, doi. 10.1002/ajmg.a.40425
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A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1996, doi. 10.1002/ajmg.a.40424
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Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1991, doi. 10.1002/ajmg.a.40386
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Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2034, doi. 10.1002/ajmg.a.40385
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- Article
Change in Prevalence of Orofacial Clefts in California between 1987 and 2010.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1910, doi. 10.1002/ajmg.a.40384
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Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375
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Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
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A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2028, doi. 10.1002/ajmg.a.40379
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- Article
Possible Congenital Zika Syndrome in Older Children Due to Earlier Circulation of Zika Virus.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1882, doi. 10.1002/ajmg.a.40378
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Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1985, doi. 10.1002/ajmg.a.40376
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
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Health supervision for people with Bloom syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1872, doi. 10.1002/ajmg.a.40374
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A novel AXIN2 gene mutation in sagittal synostosis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1976, doi. 10.1002/ajmg.a.40373
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Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1865, doi. 10.1002/ajmg.a.40372
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Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1858, doi. 10.1002/ajmg.a.40371
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A novel MYT1L mutation in a patient with severe early‐onset obesity and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1972, doi. 10.1002/ajmg.a.40370
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Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1852, doi. 10.1002/ajmg.a.40369
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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1845, doi. 10.1002/ajmg.a.40368
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Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers–Danlos syndrome and related disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1838, doi. 10.1002/ajmg.a.40364
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Phenotypic diversity of patients diagnosed with VACTERL association.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1830, doi. 10.1002/ajmg.a.40363
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Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1968, doi. 10.1002/ajmg.a.40362
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Ocular manifestations of Emanuel syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1964, doi. 10.1002/ajmg.a.40361
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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2041, doi. 10.1002/ajmg.a.40360
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Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1819, doi. 10.1002/ajmg.a.40356
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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1956, doi. 10.1002/ajmg.a.40355
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Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1810, doi. 10.1002/ajmg.a.40352
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Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1941, doi. 10.1002/ajmg.a.40350
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Publication schedule for 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1792, doi. 10.1002/ajmg.a.38446
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- Article
Table of Contents, Volume 176A, Number 9, September 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1787, doi. 10.1002/ajmg.a.38445
- Publication type:
- Article
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351
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