Found: 30
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An observational association study between maternal homocysteine and pregnancy complications or perinatal outcomes with established trimester-specific reference intervals in pregnant women.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 3, p. 355, doi. 10.1093/labmed/lmad092
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- Publication type:
- Article
Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia.
- Published in:
- Molecular Human Reproduction, 2024, v. 30, n. 2, p. 1, doi. 10.1093/molehr/gaae002
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- Publication type:
- Article
Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
- Published in:
- Molecular Human Reproduction, 2022, v. 28, n. 6, p. 1, doi. 10.1093/molehr/gaac015
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- Publication type:
- Article
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.
- Published in:
- SCIENCE CHINA Life Sciences, 2019, v. 62, n. 1, p. 144, doi. 10.1007/s11427-018-9329-3
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- Publication type:
- Article
Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.
- Published in:
- Human Genetics, 2020, v. 139, n. 2, p. 257, doi. 10.1007/s00439-020-02110-0
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- Publication type:
- Article
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
- Published in:
- Human Reproduction, 2023, v. 38, n. 7, p. 1399, doi. 10.1093/humrep/dead095
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- Publication type:
- Article
Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52436-7
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- Publication type:
- Article
RNF216 regulates meiosis and PKA stability in the testes.
- Published in:
- FASEB Journal, 2021, v. 35, n. 4, p. 1, doi. 10.1096/fj.202002294RR
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- Publication type:
- Article
Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 10, p. 1730, doi. 10.1093/hmg/ddad013
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- Publication type:
- Article
A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 27, doi. 10.1111/cge.14500
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- Publication type:
- Article
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 495, doi. 10.1111/cge.14281
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. i, doi. 10.1111/cge.13758
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- Publication type:
- Article
An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 741, doi. 10.1111/cge.13712
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- Publication type:
- Article
Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression.
- Published in:
- Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-023-00580-w
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- Publication type:
- Article
Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 2, p. 219, doi. 10.1093/hmg/ddab234
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- Publication type:
- Article
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2240, doi. 10.1093/hmg/ddab185
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- Publication type:
- Article
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 23, p. 2240, doi. 10.1093/hmg/ddab185
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- Publication type:
- Article
Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
- Published in:
- 2018
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- Publication type:
- Case Study
ZnCl<sub>2</sub>-Promoted One-Pot Three-Component Synthesis of Multisubstituted Thiazolo[4,5- b]pyridines and Thieno[2,3- b:4,5- b′]dipyridines.
- Published in:
- European Journal of Organic Chemistry, 2015, v. 2015, n. 3, p. 631, doi. 10.1002/ejoc.201403156
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- Publication type:
- Article
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 6, p. 1485, doi. 10.1007/s10815-024-03106-9
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- Publication type:
- Article
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1297, doi. 10.1007/s10815-024-03087-9
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- Publication type:
- Article
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
- Published in:
- 2023
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- Publication type:
- Case Study
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 4, p. 811, doi. 10.1007/s10815-020-01735-4
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- Publication type:
- Article
Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.
- Published in:
- 2022
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- Publication type:
- journal article
Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936264
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- Publication type:
- Article
DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice.
- Published in:
- 2023
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- Publication type:
- Letter
CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52705-8
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- Publication type:
- Article
Bi-allelic variants in human WDR63 cause male infertility via abnormal inner dynein arms assembly.
- Published in:
- Cell Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41421-021-00327-5
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- Publication type:
- Article
Bi-allelic variants in human WDR63 cause male infertility via abnormal inner dynein arms assembly.
- Published in:
- Cell Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41421-021-00327-5
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- Publication type:
- Article
Elevated levels of renal function tests conferred increased risks of developing various pregnancy complications and adverse perinatal outcomes: insights from a population-based cohort study.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 10, p. 1760, doi. 10.1515/cclm-2023-0104
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- Publication type:
- Article