Found: 30
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Short rib syndrome Beemer-Langer type, a short history.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 248, doi. 10.1002/ajmg.a.38514
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- Publication type:
- Article
Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 790, doi. 10.1002/ajmg.b.32441
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- Publication type:
- Article
Behavior in preschool children with the 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 94, doi. 10.1002/ajmg.a.35685
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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- Publication type:
- Article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568
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- Publication type:
- Article
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism.
- Published in:
- Neurogenetics, 2011, v. 12, n. 4, p. 315, doi. 10.1007/s10048-011-0297-2
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- Publication type:
- Article
Morphological Features in Children with Autism Spectrum Disorders: A Matched Case-Control Study.
- Published in:
- Journal of Autism & Developmental Disorders, 2011, v. 41, n. 1, p. 23, doi. 10.1007/s10803-010-1018-7
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- Publication type:
- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
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- Publication type:
- Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- 2010
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- Publication type:
- Correction notice
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005324
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- Publication type:
- Article
A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation.
- Published in:
- Journal of Autism & Developmental Disorders, 2009, v. 39, n. 2, p. 322, doi. 10.1007/s10803-008-0627-x
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- Publication type:
- Article
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT<sup>158</sup> Allele.
- Published in:
- Neuropsychopharmacology, 2009, v. 34, n. 3, p. 739, doi. 10.1038/npp.2008.132
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- Publication type:
- Article
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899
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- Publication type:
- Article
Cancer Genetic Counseling: Communication and Counselees’ Post-Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment.
- Published in:
- Journal of Genetic Counseling, 2007, v. 16, n. 1, p. 85
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- Publication type:
- Article
Infant mortality, ethnicity, and genetically determined disorders in The Netherlands.
- Published in:
- European Journal of Public Health, 2006, v. 16, n. 3, p. 291, doi. 10.1093/eurpub/cki201
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- Publication type:
- Article
Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- 2006
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- Publication type:
- Correction notice
Knee radiography in the diagnosis of skeletal dysplasias.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
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- Publication type:
- Article
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159
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- Publication type:
- Article
QUOTE-gene<sup>ca</sup>: development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.
- Published in:
- Psycho-Oncology, 2005, v. 14, n. 5, p. 361, doi. 10.1002/pon.853
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- Publication type:
- Article
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265
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- Publication type:
- Article
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
- Published in:
- 2004
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- Publication type:
- Directory
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7
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- Publication type:
- Article
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061
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- Publication type:
- Article
Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?
- Published in:
- Journal of Genetic Counseling, 2000, v. 9, n. 3, p. 253, doi. 10.1023/A:1009468005966
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- Publication type:
- Article
Identification of the familial cylindromatosis tumour-suppressor gene.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 160, doi. 10.1038/76006
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- Publication type:
- Article
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 342, doi. 10.1038/74155
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- Publication type:
- Article
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227
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- Publication type:
- Article
VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2).
- Published in:
- Clinical Genetics, 1998, v. 53, n. 1, p. 74, doi. 10.1111/j.1399-0004.1998.tb02586.x
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- Publication type:
- Article
Isozyme pattern of enolase of childhood tumors.
- Published in:
- 1984
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- Publication type:
- journal article