Found: 8
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
- Published in:
- Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
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- Publication type:
- Article
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
- Published in:
- 2019
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- Publication type:
- journal article
Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.
- Published in:
- Journal of Ovarian Research, 2016, v. 9, p. 1, doi. 10.1186/s13048-016-0272-5
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- Publication type:
- Article
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 4, p. 363, doi. 10.1007/s00439-019-01993-y
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- Publication type:
- Article
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
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- Publication type:
- Article
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 124, doi. 10.1159/000524388
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- Publication type:
- Article
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
- Published in:
- Cytogenetic & Genome Research, 2019, v. 159, n. 4, p. 201, doi. 10.1159/000504820
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- Publication type:
- Article
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117418
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- Publication type:
- Article