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<title>Channels - Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients :: FRELIP Discovery
Channels Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment
MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination
Baylisascariasis (Raccoon Roundworm Infection) in Two Unrelated Children - Los Angeles County, California, 2024
Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and Dissections
Forty years of captive breeding in Przewalski's horse: pedigree‐based insights into population growth, sex ratio, and inbreeding
Brachial blood flow and pressure responses are unrelated to the greater isometric handgrip tolerance of females compared to males
ggpedigree: Visualizing Pedigrees with 'ggplot2' and 'plotly'
Cryptic genera, cryptic species: phylogeny of the genus Philopteroides Mey, 2004, sensu lato, with descriptions of two new genera and one new species
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment
Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant
DNA barcoding and cryptic new species confirmation of Chimonocalamus (Poaceae: Bambusoideae)
Mitogenomic analysis reveals two cryptic lineages and provides insights into the historical biogeography of the genus Pseudohynobius (Caudata, Hynobiidae)
Cryptic or underworked? Taxonomic revision of the Antistrophus rufus species complex (Cynipoidea, Aulacideini)
Community attitudes and support for the restoration of a cryptic seabird in a peopled landscape
Emergence and spread of two SARS-CoV-2 variants of interest in Nigeria
Measurement of Hemoglobin Variants in Hemoglobinopathies
Understanding the prevalence of germline oncogenic biomarker variants across the Indian population
More hidden diversity in a cryptic species complex: a new subspecies of Leptidea sinapis (Lepidoptera, Pieridae) from Northern Iran
Comparative cytogenetics among populations of two Bothriurus species (Scorpiones, Bothriuridae)
Integrative analysis reveals cryptic speciation linked to habitat differentiation within Albanian populations of the anomalous blues (Lepidoptera, Lycaenidae, Polyommatus Latreille, 1804)
Novel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype
A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report
A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210‐11 T > G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene
