Found: 11
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Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Pai syndrome: From the womb until 19 months of age, a neurological development success story.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 7, p. 1, doi. 10.1002/ccr3.4499
- By:
- Publication type:
- Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
- By:
- Publication type:
- Article
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
- By:
- Publication type:
- Article
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
- By:
- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
- By:
- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
- By:
- Publication type:
- Article
First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1222, doi. 10.1002/pd.2638
- By:
- Publication type:
- Article
TCHÈQUES ET ALLEMANDS AUJOURD'HUI: BON VOISINAGE SUR FOND DE RECONCILIATION DIFFICILE.
- Published in:
- Revue d'Études Comparatives Est-Ouest, 2009, v. 40, n. 1, p. 99, doi. 10.4074/S0338059909001053
- By:
- Publication type:
- Article
Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 1, p. 1, doi. 10.1002/(SICI)1097-0223(200001)20:1<1::AID-PD739>3.0.CO;2-6
- By:
- Publication type:
- Article
Prenatal diagnosis with biotinylated chromosome specific probes.
- Published in:
- 1988
- By:
- Publication type:
- journal article