Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 6
Results: 15
RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 669, doi. 10.1111/cge.14436
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LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 694, doi. 10.1111/cge.14433
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Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 700, doi. 10.1111/cge.14429
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Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 648, doi. 10.1111/cge.14425
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A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 705, doi. 10.1111/cge.14413
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Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 625, doi. 10.1111/cge.14412
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Prospects and challenges of CRISPR/Cas9 gene‐editing technology in cancer research.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 613, doi. 10.1111/cge.14424
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Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 637, doi. 10.1111/cge.14423
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- Article
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 674, doi. 10.1111/cge.14422
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A X‐linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria‐like phenotypes.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 659, doi. 10.1111/cge.14420
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Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 713, doi. 10.1111/cge.14418
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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
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- Article
From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age.
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- Clinical Genetics, 2023, v. 104, n. 6, p. 711, doi. 10.1111/cge.14417
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- Article
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
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- Clinical Genetics, 2023, v. 104, n. 6, p. 679, doi. 10.1111/cge.14406
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 611, doi. 10.1111/cge.14162
- Publication type:
- Article