Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 10
Results: 56
Remembered: F. Clarke Fraser.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2229, doi. 10.1002/ajmg.a.37091
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Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2447, doi. 10.1002/ajmg.a.37098
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GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2491, doi. 10.1002/ajmg.a.37160
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Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2382, doi. 10.1002/ajmg.a.37162
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In this issue.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. xi, doi. 10.1002/ajmg.a.37380
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- Article
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2485, doi. 10.1002/ajmg.a.37163
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Intestinal malrotation in Rubinstein-Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2399, doi. 10.1002/ajmg.a.37167
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When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2244, doi. 10.1002/ajmg.a.37168
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American society of human genetics updates guidance on genetic testing in children.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. viii, doi. 10.1002/ajmg.a.37357
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- Article
Young Italian clinician wins opitz award.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. ix, doi. 10.1002/ajmg.a.37358
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- Article
Novel and recurrent mutations in WISP3 and an atypical phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164
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Behavioral characteristics associated with 19p13.2 microdeletions.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2334, doi. 10.1002/ajmg.a.37180
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Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2344, doi. 10.1002/ajmg.a.37181
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A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2286, doi. 10.1002/ajmg.a.37182
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Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2411, doi. 10.1002/ajmg.a.37184
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De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185
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Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2282, doi. 10.1002/ajmg.a.37186
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Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2463, doi. 10.1002/ajmg.a.37187
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Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188
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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2231, doi. 10.1002/ajmg.a.37189
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Response to Finsterer and Stöllberger 'Explanations for discordance of noncompaction in monozygotic twins'.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2495, doi. 10.1002/ajmg.a.37200
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Explanations for discordance of noncompaction in monozygotic twins.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2493, doi. 10.1002/ajmg.a.37201
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Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2435, doi. 10.1002/ajmg.a.37202
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Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2440, doi. 10.1002/ajmg.a.37203
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Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2444, doi. 10.1002/ajmg.a.37204
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Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva ( ACVR1 c.772G>A; R258G): A report of two patients.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2265, doi. 10.1002/ajmg.a.37205
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Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2357, doi. 10.1002/ajmg.a.37206
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Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2451, doi. 10.1002/ajmg.a.37207
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SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177
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In response to 'In utero exposure to methotrexate and risk of congenital malformations'.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2490, doi. 10.1002/ajmg.a.37151
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In utero exposure to methotrexate and risk of congenital malformations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2488, doi. 10.1002/ajmg.a.37153
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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 ( INPPL1).
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2470, doi. 10.1002/ajmg.a.37173
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Glioblastoma multiforme in a child with tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2388, doi. 10.1002/ajmg.a.37158
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Report of a case of Raine syndrome and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2394, doi. 10.1002/ajmg.a.37159
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Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2314, doi. 10.1002/ajmg.a.37152
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Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2402, doi. 10.1002/ajmg.a.37171
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ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2376, doi. 10.1002/ajmg.a.37157
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Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2238, doi. 10.1002/ajmg.a.37174
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Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2478, doi. 10.1002/ajmg.a.37175
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Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2459, doi. 10.1002/ajmg.a.37176
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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2272, doi. 10.1002/ajmg.a.37172
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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2406, doi. 10.1002/ajmg.a.37178
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De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2327, doi. 10.1002/ajmg.a.37179
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Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2350, doi. 10.1002/ajmg.a.37190
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Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2425, doi. 10.1002/ajmg.a.37191
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Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192
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Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193
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Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2474, doi. 10.1002/ajmg.a.37194
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Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2251, doi. 10.1002/ajmg.a.37198
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Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2375, doi. 10.1002/ajmg.a.37199
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