Found: 21
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Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001
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- Publication type:
- Article
Further delineation of SLC9A3‐related congenital sodium diarrhea.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2000
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- Publication type:
- Article
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1999
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- Article
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1998
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- Publication type:
- Article
Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1997
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- Article
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta.
- Published in:
- 2022
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- Publication type:
- Case Study
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1994
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- Article
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review.
- Published in:
- 2022
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- Publication type:
- Case Study
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1992
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- Publication type:
- Article
Cernunnos defect in an Iranian patient with T<sup>−</sup> B<sup>+</sup>NK<sup>+</sup> severe combined immunodeficiency: A case report and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1990
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- Publication type:
- Article
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1989
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- Publication type:
- Article
Noninvasive prenatal prediction of fetal haplotype with Spearman rank correlation analysis model.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1988
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- Publication type:
- Article
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1987
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- Publication type:
- Article
Targeted copy number variant identification across the neurodegenerative disease spectrum.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1986
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- Publication type:
- Article
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1985
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- Publication type:
- Article
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1972
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- Publication type:
- Article
Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1970
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- Publication type:
- Article
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1969
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- Publication type:
- Article
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1947
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- Publication type:
- Article
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1939
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- Publication type:
- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1719
- Publication type:
- Article