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©
Terkko 2005-2021
A rare gene variation cap +1 (A>C) (HBB: c.−50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family
Molecular Genetics & Genomic Medicine
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Loss‐of‐function or gain‐of‐function variations in VINCULIN (VCL) are risk factors of human neural tube defects
Molecular Genetics & Genomic Medicine
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Genetic variants associated with diseases in Afghan population
Molecular Genetics & Genomic Medicine
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Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
Molecular Genetics & Genomic Medicine
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BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
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Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family
Molecular Genetics & Genomic Medicine
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Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy
Molecular Genetics & Genomic Medicine
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Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
Molecular Genetics & Genomic Medicine
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Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
Molecular Genetics & Genomic Medicine
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Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin
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Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
Molecular Genetics & Genomic Medicine
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High frequency of the risk allele of rs4132601 and rs11978267 from the IKZF1 gene in indigenous Mexican population
Molecular Genetics & Genomic Medicine
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Genetic structure and forensic characterization of 36 Y‐chromosomal STR loci in Tibeto‐Burman‐speaking Yi population
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Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
Molecular Genetics & Genomic Medicine
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Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
Molecular Genetics & Genomic Medicine
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Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
Molecular Genetics & Genomic Medicine
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The association of lncRNA SNPs and SNPs‐environment interactions based on GWAS with HBV‐related HCC risk and progression
Molecular Genetics & Genomic Medicine
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Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
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Gain‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia
Molecular Genetics & Genomic Medicine
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Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree
Molecular Genetics & Genomic Medicine
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H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four‐center case‐control study
Molecular Genetics & Genomic Medicine
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Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis
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Overexpression of chemokine receptor lymphotactin receptor 1 has prognostic value in clear cell renal cell carcinoma
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Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease
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A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene
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Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Molecular Genetics & Genomic Medicine
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Patient with CATSPER3 mutations‐related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI)
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Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review
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Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review
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Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients
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TH17/IL23 cytokine gene polymorphisms in bullous pemphigoid
Molecular Genetics & Genomic Medicine
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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
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Sickle cell disease in Grenada: Quality of life and barriers to care
Molecular Genetics & Genomic Medicine
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A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia
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Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
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Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
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Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood
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Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome
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Maternal adiposity is associated with inflammatory gene expression in leukocytes at term human pregnancy: A pilot study
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Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
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A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis
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Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
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LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
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The association of MOV10 polymorphism and expression levels with preeclampsia in the Chinese Han population
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NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants
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Matching methods in precision oncology: An introduction and illustrative example
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A competing endogenous RNA network reveals key lncRNAs associated with sepsis
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Report of a rare case of congenital mitral valve prolapse with chronic kidney disease––reconsidered genotype–phenotypic correlations
Molecular Genetics & Genomic Medicine
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Clinicopathological and immunological characterization of RNA m6A methylation regulators in ovarian cancer
Molecular Genetics & Genomic Medicine
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