Found: 21
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Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
- By:
- Publication type:
- Article
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01519-8
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- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
- By:
- Publication type:
- Article
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 18, p. 1324, doi. 10.1002/bdr2.1950
- By:
- 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
- By:
- Publication type:
- Article
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 348, doi. 10.1111/cge.13996
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- Publication type:
- Article
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840
- By:
- Publication type:
- Article
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 261, doi. 10.1111/cge.13801
- By:
- Publication type:
- Article
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
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- Publication type:
- Article
Cilia in hereditary cerebral anomalies.
- Published in:
- Biology of the Cell (Wiley-Blackwell), 2019, v. 111, n. 9, p. 217, doi. 10.1111/boc.201900012
- By:
- Publication type:
- Article
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
- Published in:
- Brain Sciences (2076-3425), 2018, v. 8, n. 8, p. 145, doi. 10.3390/brainsci8080145
- By:
- Publication type:
- Article
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1610, doi. 10.1002/ajmg.a.38685
- By:
- Publication type:
- Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
- By:
- Publication type:
- Article
A neuropathological study of novel <italic>RTTN</italic> gene mutations causing a familial microcephaly with simplified gyral pattern.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 7, p. 598, doi. 10.1002/bdr2.1204
- By:
- Publication type:
- Article
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 6, p. 538, doi. 10.1002/bdr2.1191
- By:
- Publication type:
- Article
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
- By:
- Publication type:
- Article
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 19, p. 1586, doi. 10.1002/bdr2.1093
- By:
- Publication type:
- Article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
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- Publication type:
- Article
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
- By:
- Publication type:
- Article