Results 121 to 130 of about 818 (199)

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA. [PDF]

NPJ Genom Med, 2022
Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K.   +15 more
europepmc   +1 more source

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema. [PDF]

J Clin Immunol
Batlle-Masó L, Neveling K, Gil-Serrano J, Kamping E, den Ouden A, Timmermans R, Bruch-Tàrrega A, Aguiló-Cucurull A, Perurena-Prieto J, Fernández-Álvarez P, Steehouwer M, Hoischen A, Guilarte M, Colobran R.   +13 more
europepmc   +1 more source

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer. [PDF]

Gastroenterology, 2020
Elsayed FA, Grolleman JE, Ragunathan A, NTHL1 study group, Buchanan DD, van Wezel T, de Voer RM.   +6 more
europepmc   +1 more source

Geographically structured genetic and morphological variation in a new species of <i>Cyrtodactylus</i> (Squamata, Gekkonidae) from a karstic archipelago in western Cambodia. [PDF]

Zookeys
Quah ESH, Grismer LL, Sinovas P, Chourn P, Chhin S, Hun S, Cobos A, Geissler P, Ching C, Murdoch ML, Thi S, Gregory JJ, Nguyen E, Hernandez AP, Kaatz A, Grismer JL.   +15 more
europepmc   +1 more source

The Development and Expansion of in vivo Germline Editing Technologies in Arthropods: Receptor-Mediated Ovary Transduction of Cargo (ReMOT Control) and Beyond. [PDF]

Integr Comp Biol, 2023
Terradas G, Macias VM, Peterson H, McKeand S, Krawczyk G, Rasgon JL.   +5 more
europepmc   +1 more source

Kamping, Albert [PDF]

, 2016
Kamping, Albert
core  

Bit-reproducible parallel phylogenetic tree inference. [PDF]

Bioinformatics
Stelz C, Hübner L, Stamatakis A.
europepmc   +1 more source

The identification and expression pattern of the sex determination genes and their sex-specific variants in the egg parasitoid Trichogramma dendrolimi Matsumura (Hymenoptera: Trichogrammatidae). [PDF]

Front Physiol, 2023
Ning SF, Huo LX, Lv L, Wang Y, Zhang LS, Che WN, Dong H, Zhou JC.   +7 more
europepmc   +1 more source

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants. [PDF]

Eur J Hum Genet
Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Corominas Galbany J, van Beek R, Kamping E, Timmermans R, Kamsteeg EJ, Haer-Wigman L, Cremers FPM, Roosing S, Gilissen C, Kremer H, Brunner HG, Yntema HG, Vissers LELM.   +17 more
europepmc   +1 more source

Optical genome mapping enables accurate testing of large repeat expansions. [PDF]

Genome Res
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A.   +20 more
europepmc   +1 more source