Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 8
Results: 50
Disability training in the genetic counseling curricula: Bridging the gap between genetic counselors and the disability community.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1909, doi. 10.1002/ajmg.a.36613
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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2043, doi. 10.1002/ajmg.a.36559
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Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2136, doi. 10.1002/ajmg.a.36572
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De novo microdeletion of BCL11A is associated with severe speech sound disorder.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2091, doi. 10.1002/ajmg.a.36599
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Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A ( MLL).
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2079, doi. 10.1002/ajmg.a.36590
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Study suggests genetic link between Down syndrome and leukemia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. x, doi. 10.1002/ajmg.a.36675
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- Article
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2013, doi. 10.1002/ajmg.a.36606
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Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1991, doi. 10.1002/ajmg.a.36602
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Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1940, doi. 10.1002/ajmg.a.36583
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Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1916, doi. 10.1002/ajmg.a.36554
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Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1981, doi. 10.1002/ajmg.a.36594
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Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2003, doi. 10.1002/ajmg.a.36605
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Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2025, doi. 10.1002/ajmg.a.36547
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New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1965, doi. 10.1002/ajmg.a.36587
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The perinatal presentation of cardiofaciocutaneous syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2036, doi. 10.1002/ajmg.a.36558
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Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2097, doi. 10.1002/ajmg.a.36598
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The society of craniofacial genetics and developmental biology 36th annual meeting.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1873, doi. 10.1002/ajmg.a.36565
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Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2020, doi. 10.1002/ajmg.a.34020
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Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1998, doi. 10.1002/ajmg.a.36601
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Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), −22 [10].
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2048, doi. 10.1002/ajmg.a.36560
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NIH calls for stronger statistical evidence to support pathogenicity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. ix, doi. 10.1002/ajmg.a.36674
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- Article
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2062, doi. 10.1002/ajmg.a.36569
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Table of Contents, Volume 164A, Number 8, August 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. fm i, doi. 10.1002/ajmg.a.36719
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A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2059, doi. 10.1002/ajmg.a.36582
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De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2141, doi. 10.1002/ajmg.a.36593
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Response to Li and Liu's 'Darwin's statements on reversion or atavism'.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2140, doi. 10.1002/ajmg.a.36586
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Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2029, doi. 10.1002/ajmg.a.36557
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Self-concept in children with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1891, doi. 10.1002/ajmg.a.36597
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Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2121, doi. 10.1002/ajmg.a.36568
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Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2124, doi. 10.1002/ajmg.a.36579
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Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2104, doi. 10.1002/ajmg.a.36604
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American Journal of Medical Genetics Part A: Volume 164A, Number 8, August 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. C1, doi. 10.1002/ajmg.a.36718
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Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36570
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Darwin's statements on reversion or atavism.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2138, doi. 10.1002/ajmg.a.36581
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Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1976, doi. 10.1002/ajmg.a.36592
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A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2118, doi. 10.1002/ajmg.a.36563
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Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1931, doi. 10.1002/ajmg.a.36574
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Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2129, doi. 10.1002/ajmg.a.36585
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Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2114, doi. 10.1002/ajmg.a.36567
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Mild nasal clefting may be predictive for ALX4 heterozygotes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2054, doi. 10.1002/ajmg.a.36578
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Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2074, doi. 10.1002/ajmg.a.36589
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Response to 'De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features'.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2144, doi. 10.1002/ajmg.a.36603
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Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1947, doi. 10.1002/ajmg.a.36580
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Confirmation of 6q21-6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2109, doi. 10.1002/ajmg.a.36548
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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
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In this issue.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. xii, doi. 10.1002/ajmg.a.36676
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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1953, doi. 10.1002/ajmg.a.36584
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7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2133, doi. 10.1002/ajmg.a.36566
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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1899, doi. 10.1002/ajmg.a.36551
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Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2069, doi. 10.1002/ajmg.a.36588
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