Found: 79
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Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2314
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- Article
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
- Published in:
- 2024
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- Publication type:
- Case Study
Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2332
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- Article
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2337
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- Article
Height of non‐Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2321
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- Article
Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2289
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- Article
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2357
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- Article
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.
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- 2024
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- Publication type:
- Case Study
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
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- 2024
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- Publication type:
- Case Study
A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review.
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- 2024
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- Publication type:
- Case Study
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2355
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- Article
Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2360
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- Article
Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2278
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- Article
A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2310
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- Article
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2298
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- Article
Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2299
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- Article
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2322
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- Publication type:
- Article
Comprehensive application of multiple molecular diagnostic techniques in pre‐implantation genetic testing for monogenic.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2293
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- Publication type:
- Article
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2297
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- Publication type:
- Article
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2326
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- Article
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2345
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- Article
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2312
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- Article
Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2351
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- Article
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow‐up.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2324
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- Publication type:
- Article
Genetic analysis and literature review of a Poirier–Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2327
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- Article
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2304
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- Publication type:
- Article
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2364
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- Publication type:
- Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
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- Article
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2335
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- Article
Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2346
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- Article
Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2286
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- Publication type:
- Article
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2305
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- Publication type:
- Article
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2294
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- Publication type:
- Article
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
- Published in:
- 2024
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- Publication type:
- Case Study
Identification and interruption of inheritance of familial cryptic translocations: A case report.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2356
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- Publication type:
- Article
Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor‐forming potential in an early‐stage prostate cancer epithelial subline (M2205).
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2307
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- Publication type:
- Article
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2318
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- Publication type:
- Article
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
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- Article
Gender‐dependent multiple cross‐phenotype association of interferon lambda genetic variants with peripheral blood profiles in healthy individuals.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2292
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- Publication type:
- Article
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
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- Publication type:
- Article
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2342
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- Publication type:
- Article
Mutation spectrum of thalassemia among pre‐pregnant adults in the Jiangsu Province by capillary electrophoresis‐based multiplex PCR assay.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2344
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- Publication type:
- Article
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2280
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- Publication type:
- Article
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2315
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- Article
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.
- Published in:
- 2024
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- Publication type:
- Case Study
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
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- 2024
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- Publication type:
- Case Study
Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2295
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- Publication type:
- Article
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2331
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- Publication type:
- Article
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2325
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- Publication type:
- Article
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308
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- Publication type:
- Article