| A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus | Molecular Genetics & Genomic Medicine | 2 days | save |  |  |  |
| Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina | Molecular Genetics & Genomic Medicine | 2 days | save | | | |
| Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing | Molecular Genetics & Genomic Medicine | 2 days | save | | | |
| Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study | Molecular Genetics & Genomic Medicine | 3 days | save | | | |
| Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis | Molecular Genetics & Genomic Medicine | 3 days | save | | | |
| Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3 | Molecular Genetics & Genomic Medicine | 10 days | save | | | |
| Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review | Molecular Genetics & Genomic Medicine | 10 days | save | | | |
| Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism | Molecular Genetics & Genomic Medicine | 10 days | save | | | |
| Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy | Molecular Genetics & Genomic Medicine | 10 days | save | | | |
| A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies | Molecular Genetics & Genomic Medicine | 10 days | save | | | |
| Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 | Molecular Genetics & Genomic Medicine | 15 days | save | | | |
| Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly | Molecular Genetics & Genomic Medicine | 15 days | save | | | |
| Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320) | Molecular Genetics & Genomic Medicine | 18 days | save | | | |
| Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations | Molecular Genetics & Genomic Medicine | 18 days | save | | | |
| Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy | Molecular Genetics & Genomic Medicine | 20 days | save | | | |
| Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu/Alu‐mediated genomic rearrangements | Molecular Genetics & Genomic Medicine | 20 days | save | | | |
| Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients | Molecular Genetics & Genomic Medicine | 22 days | save | | | |
| Heritability and genome‐wide association study of blood pressure in Chinese adult twins | Molecular Genetics & Genomic Medicine | 22 days | save | | | |
| Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C | Molecular Genetics & Genomic Medicine | 22 days | save | | | |
| Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia | Molecular Genetics & Genomic Medicine | 22 days | save | | | |
| HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report | Molecular Genetics & Genomic Medicine | 22 days | save | | | |
| Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis | Molecular Genetics & Genomic Medicine | 32 days | save | | | |
| Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1 | Molecular Genetics & Genomic Medicine | 32 days | save | | | |
| Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Far and wide: Exploring provider utilization of remote service provision for genome‐wide sequencing in Canada | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries | Molecular Genetics & Genomic Medicine | 35 days | save | | | |
| Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms | Molecular Genetics & Genomic Medicine | 39 days | save | | | |
| Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies | Molecular Genetics & Genomic Medicine | 40 days | save | | | |
| Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature | Molecular Genetics & Genomic Medicine | 40 days | save | | | |
| Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients | Molecular Genetics & Genomic Medicine | 40 days | save | | | |
| Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants | Molecular Genetics & Genomic Medicine | 40 days | save | | | |
| Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy | Molecular Genetics & Genomic Medicine | 43 days | save | | | |
| Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China | Molecular Genetics & Genomic Medicine | 44 days | save | | | |
| Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data | Molecular Genetics & Genomic Medicine | 45 days | save | | | |
| Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation | Molecular Genetics & Genomic Medicine | 46 days | save | | | |
| A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies | Molecular Genetics & Genomic Medicine | 47 days | save | | | |
| A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome | Molecular Genetics & Genomic Medicine | 49 days | save | | | |
| Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing | Molecular Genetics & Genomic Medicine | 49 days | save | | | |
| Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea | Molecular Genetics & Genomic Medicine | 49 days | save | | | |
| LncRNA‐H19 gene plays a significant role in regulating glioma cell function | Molecular Genetics & Genomic Medicine | 50 days | save | | | |
| Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome | Molecular Genetics & Genomic Medicine | 50 days | save | | | |
| Association of NQO1 levels and its genetic polymorphism with susceptibility to methamphetamine dependence | Molecular Genetics & Genomic Medicine | 52 days | save | | | |
| The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements | Molecular Genetics & Genomic Medicine | 57 days | save | | | |
| Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs | Molecular Genetics & Genomic Medicine | 57 days | save | | | |
| The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome | Molecular Genetics & Genomic Medicine | 57 days | save | | | |
| Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India | Molecular Genetics & Genomic Medicine | 59 days | save | | | |
| Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome | Molecular Genetics & Genomic Medicine | 59 days | save | | | |
| Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method | Molecular Genetics & Genomic Medicine | 60 days | save | | | |
| Hyperhaemolysis in a pregnant woman with a homozygousβ0‐thalassemia mutation and two genetic modifiers | Molecular Genetics & Genomic Medicine | 64 days | save | | | |
| Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family | Molecular Genetics & Genomic Medicine | 66 days | save | | | |
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