Found: 15
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Biallelic loss of function variant in ZNF808 is associated with non‐syndromic neonatal diabetes.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 497, doi. 10.1111/cge.14389
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- Article
Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 491, doi. 10.1111/cge.14381
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- Article
Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 406, doi. 10.1111/cge.14388
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- Article
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 479, doi. 10.1111/cge.14379
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- Article
Pathogenic bi‐allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 486, doi. 10.1111/cge.14380
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- Article
Motivations to learn genomic information are not exceptional: Lessons from behavioral science.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 397, doi. 10.1111/cge.14401
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- Article
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 443, doi. 10.1111/cge.14398
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- Article
Medical and psychosocial outcomes of state‐funded population genomic screening.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 434, doi. 10.1111/cge.14394
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- Article
Spanish mental health residents' perspectives about residency education on the genetics of psychiatric disorders: A cross‐sectional survey.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 427, doi. 10.1111/cge.14393
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- Article
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 418, doi. 10.1111/cge.14391
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- Article
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 499, doi. 10.1111/cge.14390
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- Article
Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 472, doi. 10.1111/cge.14364
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 395, doi. 10.1111/cge.14161
- Publication type:
- Article
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 466, doi. 10.1111/cge.14363
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- Article
A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 461, doi. 10.1111/cge.14362
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- Article