Found: 26
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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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- Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618
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- Article
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
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- 2019
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- Publication type:
- journal article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
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- 2017
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- journal article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
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- Article
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
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- 2019
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- Publication type:
- journal article
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
- Published in:
- 2019
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- journal article
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
- Published in:
- 2016
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- Publication type:
- journal article
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
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- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 35, doi. 10.1002/pd.4478
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- Publication type:
- Article
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1216, doi. 10.1038/ejhg.2009.44
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- Article
Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.
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- 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
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989
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- Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
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- Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
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- 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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- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Article
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021
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- Article
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
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- European Journal of Epidemiology, 2024, v. 39, n. 7, p. 753, doi. 10.1007/s10654-024-01125-5
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- Article
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1458, doi. 10.1002/ajmg.a.34048
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- Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
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- Article
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
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- Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
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- Article
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
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- Article
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2133, doi. 10.1002/ajmg.a.61734
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- Article
Constitutional telomeric association (Y;7) in a patient with a female phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1436, doi. 10.1002/ajmg.a.35889
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- Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
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- 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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- Article
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
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- Cytogenetic & Genome Research, 2019, v. 159, n. 4, p. 201, doi. 10.1159/000504820
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- Article