Found: 17
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Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2023, v. 483, n. 5, p. 709, doi. 10.1007/s00428-023-03638-y
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- Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
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- Publication type:
- Article
A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 543, doi. 10.1111/cge.14217
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- Publication type:
- Article
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021
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- Publication type:
- Article
Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.
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- Cytogenetic & Genome Research, 2021, v. 161, n. 8/9, p. 445, doi. 10.1159/000518689
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- Publication type:
- Article
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
- Published in:
- Neurogenetics, 2021, v. 22, n. 3, p. 195, doi. 10.1007/s10048-021-00653-6
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- Publication type:
- Article
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2133, doi. 10.1002/ajmg.a.61734
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- 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
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- Article
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography.
- Published in:
- 2018
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- Case Study
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
- Published in:
- 2016
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- Publication type:
- journal article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
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- Publication type:
- Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-53
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- Publication type:
- Article
Accuracy of Ultrasonography and Magnetic Resonance Imaging in the Diagnosis of Placenta Accreta.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094866
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- Publication type:
- Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
- Published in:
- 2014
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- Publication type:
- journal 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
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- Publication type:
- Article
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
- Published in:
- 2005
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- Publication type:
- Letter
Genetic alterations in early-onset invasive breast carcinomas: Correlation of c- erbB-2 amplification detected by fluorescence In situ hybridization with p53 accumulation and tumor phenotype.
- Published in:
- International Journal of Cancer, 1999, v. 84, n. 5, p. 511, doi. 10.1002/(SICI)1097-0215(19991022)84:5<511::AID-IJC11>3.0.CO;2-5
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- Publication type:
- Article