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Immunological Investigations|October 12, 2011
Variation in genes of β-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patientsDiana C Rosentul, Theo S Plantinga, Antonios Papadopoulos, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
LRP5 variants may contribute to ADPKDWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Molecular Vision|June 6, 2012
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosaMuhammad Ajmal, Muhammad Imran Khan, Shazia Micheal, et al.
Mycopathologia|October 8, 2025
No Evidence for Environmental Triazole Resistance Selection Route in Aspergillus Section Flavi, The Netherlands, 1994-2023Shaoqin Zhou, Sarah A Ahmed, Marlou Tehupeiory-Kooreman, et al.
Protein Engineering, Design & Selection : PEDS|May 6, 2017
NewProt - a protein engineering portalAndreas Schwarte, Maika Genz, Lilly Skalden, et al.
Journal of the American Society of Nephrology : JASN|November 9, 2013
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wastingSilvia Ferrè, Jeroen H F de Baaij, Patrick Ferreira, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsG Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.
Journal of Medical Genetics|September 26, 2024
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypesJoery den Hoed, Hirokazu Hashimoto, Mubeen Khan, et al.
Ear and Hearing|September 26, 2014
Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrumAnne Marthe Maria Oonk, Ramon A C van Huet, Joop M Leijendeckers, et al.
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
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