Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 6
Results: 54
De novo intragenic deletion of the autism susceptibility candidate 2 ( AUTS2) gene in a patient with developmental delay: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1508, doi. 10.1002/ajmg.a.35922
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A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1487, doi. 10.1002/ajmg.a.35911
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Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1278, doi. 10.1002/ajmg.a.35863
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A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 ( LIS1) in a girl with syndromic lissencephaly.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1453, doi. 10.1002/ajmg.a.35904
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Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1319, doi. 10.1002/ajmg.a.35915
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Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1345, doi. 10.1002/ajmg.a.35926
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American Journal of Medical Genetics Part A: Volume 161A, Number 6, June 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. C1, doi. 10.1002/ajmg.a.36070
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- Article
Clinical correlations of mutations affecting six components of the SWI/ SNF complex: Detailed description of 21 patients and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1221, doi. 10.1002/ajmg.a.35933
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Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1214, doi. 10.1002/ajmg.a.35908
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Guidelines support the return of incidental genomic findings.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. vii, doi. 10.1002/ajmg.a.36012
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- Article
A de novo GLI 3 mutation in a patient with acrocallosal syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
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Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1329, doi. 10.1002/ajmg.a.35919
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Novel mutation in TP 63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1432, doi. 10.1002/ajmg.a.35885
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Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1425, doi. 10.1002/ajmg.a.35884
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Constitutional telomeric association (Y;7) in a patient with a female phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1436, doi. 10.1002/ajmg.a.35889
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109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1465, doi. 10.1002/ajmg.a.35910
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Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1339, doi. 10.1002/ajmg.a.35925
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Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1459, doi. 10.1002/ajmg.a.35907
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Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
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Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1517, doi. 10.1002/ajmg.a.35866
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12q24.33 deletion: Report of a patient with intellectual disability and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1409, doi. 10.1002/ajmg.a.35877
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Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1475, doi. 10.1002/ajmg.a.35920
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Discordant chromosome placental mosaicism in a dichorionic twin pregnancy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1498, doi. 10.1002/ajmg.a.35902
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Case of genochondromatosis type I in an 8-year-old boy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1513, doi. 10.1002/ajmg.a.35924
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A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1207, doi. 10.1002/ajmg.a.35850
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Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1300, doi. 10.1002/ajmg.a.35906
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Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1491, doi. 10.1002/ajmg.a.35872
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Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1323, doi. 10.1002/ajmg.a.35917
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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1421, doi. 10.1002/ajmg.a.35883
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Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder Recurrent Compartment Syndrome in a Patient With Clinical Features of a Connective Tissue Disorder.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1442, doi. 10.1002/ajmg.a.35894
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Response to Cobben et al. 'Array CGH on unstimulated blood does not detect all cases of Pallister-Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice'.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1520, doi. 10.1002/ajmg.a.35865
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In this issue.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. x, doi. 10.1002/ajmg.a.36014
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Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1405, doi. 10.1002/ajmg.a.35876
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Partial tetrasomy 14 associated with multiple malformations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1284, doi. 10.1002/ajmg.a.35887
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ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1376, doi. 10.1002/ajmg.a.35858
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Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1447, doi. 10.1002/ajmg.a.35901
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A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1501, doi. 10.1002/ajmg.a.35912
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Utilizing high-fidelity crucial conversation simulation in genetic counseling training.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1273, doi. 10.1002/ajmg.a.35952
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Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1264, doi. 10.1002/ajmg.a.35963
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Elements of morphology: Standard terminology for the external genitalia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1238, doi. 10.1002/ajmg.a.35934
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Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1381, doi. 10.1002/ajmg.a.35860
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Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1291, doi. 10.1002/ajmg.a.35905
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Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1390, doi. 10.1002/ajmg.a.35871
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Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1470, doi. 10.1002/ajmg.a.35916
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X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1414, doi. 10.1002/ajmg.a.35882
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De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1480, doi. 10.1002/ajmg.a.35927
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Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion Birth Seasonality in Prader-Willi Syndrome Resulting From Chromosome 15 Microdeletion.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1495, doi. 10.1002/ajmg.a.35893
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Table of Contents, Volume 161A, Number 6, June 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. fm i, doi. 10.1002/ajmg.a.36071
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- Article
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1354, doi. 10.1002/ajmg.a.35938
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Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1386, doi. 10.1002/ajmg.a.35864
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