Found: 17
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3.
- Published in:
- Journal of Clinical Investigation, 2004, v. 114, n. 10, p. 1512, doi. 10.1172/JCI200422588
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- Publication type:
- Article
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
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- Publication type:
- Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
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- Publication type:
- Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
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- Publication type:
- Article
Prenatal sonographic diagnosis of the 49,XXXXY syndrome.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 13, p. 1177, doi. 10.1002/pd.473
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- Publication type:
- Article
Pallister-Killian syndrome: difficulties of prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 6, p. 470, doi. 10.1002/pd.342
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- Publication type:
- Article
Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009.
- Published in:
- Fetal Diagnosis & Therapy, 2015, v. 37, n. 1, p. 6, doi. 10.1159/000362663
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- Publication type:
- Article
Clinical utility gene card for: Arterial tortuosity syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.294
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- Publication type:
- Article
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1013, doi. 10.1038/sj.ejhg.5201442
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- Publication type:
- Article
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134
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- Publication type:
- Article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis?
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 12, p. 1021, doi. 10.1002/pd.730
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- Publication type:
- Article
SRPX2 mutations in disorders of language cortex and cognition.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 7, p. 1195, doi. 10.1093/hmg/ddl035
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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
Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 3, p. 355, doi. 10.1093/hmg/5.3.355
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- Publication type:
- Article
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 6, p. 293, doi. 10.1159/000366252
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- Publication type:
- Article