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Heterozygosity

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1

Katherine Stanbury, Renata Stavinohova, [ ... ], Cathryn S. Mellersh

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population

Danny Xuan-Rong Koh, Mohamed Afiq Hidayat Zailani, [ ... ], Endom Ismail

The Drosophila drop-dead gene is required for eggshell integrity

Tayler D. Sheahan, Amanpreet Grewal, Laura E. Korthauer, Edward M. Blumenthal

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

Nina Vodnjov, Janez Toplišek, [ ... ], Karin Writzl

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan

Bushra Gul, Sabika Firasat, [ ... ], Kiran Afshan

Authentication of Allium ulleungense, A. microdictyon and A. ochotense based on super-barcoding of plastid genome and 45S nrDNA

Minyoung Lee, Hyo Young Lee, [ ... ], Tae-Jin Yang

Differences in the genomic diversity, structure, and inbreeding patterns in wild and managed populations of Agave potatorum Zucc. used in the production of Tobalá mezcal in Southern Mexico

Karen Y. Ruiz Mondragón, Anastasia Klimova, [ ... ], Luis E. Eguiarte

Female sex protects against renal edema, but not lung edema, in mice with partial deletion of the endothelial barrier regulator Tie2 compared to male sex

Anoek L. I. van Leeuwen, Elise Beijer, [ ... ], Charissa E. van den Brom

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Kamonwan Chamchoy, Sirapapha Sudsumrit, [ ... ], Usa Boonyuen

Single-tube multiplex real-time PCR with EvaGreen and high-resolution melting analysis for diagnosis of α⁰-thalassemia--^SEA,--^THAI, and--^CR type deletions

Chedtapak Ruengdit, Manoo Punyamung, Nutjeera Intasai, Sakorn Pornprasert

The rod synapse in aging wildtype and Dscaml1 mutant mice

Mellisa R. Clemons, Ren H. Dimico, [ ... ], Peter G. Fuerst

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing

Agung Triono, Kristy Iskandar, [ ... ], Elisabeth Siti Herini

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