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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 18, 2007
High-resolution genomic microarrays for X-linked mental retardationDorien Lugtenberg, Joris A Veltman, Hans van Bokhoven
European Journal of Medical Genetics|February 8, 2021
Polycystic liver disease genes: Practical considerations for genetic testingMelissa M Boerrigter, Ernie M H F Bongers, Dorien Lugtenberg, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|September 23, 2018
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic CounselingIlse M Rood, Jeroen K J Deegens, Dorien Lugtenberg, et al.
The Pan African Medical Journal|December 10, 2021
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese familySamar Sabir Hassan, Marlies Kempers, Dorien Lugtenberg, et al.
Kidney International Reports|January 10, 2022
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable OutcomesIlse M Rood, Aernoud Bavinck, Beata S Lipska-Ziętkiewicz, et al.
Journal of the American Society of Nephrology : JASN|July 16, 2017
A Missense Mutation in the Extracellular Domain of <i>α</i>ENaC Causes Liddle SyndromeMahdi Salih, Ivan Gautschi, Miguel X van Bemmelen, et al.
Pediatric Rheumatology Online Journal|May 27, 2016
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndromeBram Peters, Janneke H M Schuurs-Hoeijmakers, Joris Fuijkschot, et al.
Arthritis and Rheumatism|December 17, 2002
Identity of the RNase MRP- and RNase P-associated Th/To autoantigenHans Van Eenennaam, Judith H P Vogelzangs, Dorien Lugtenberg, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thoraxDorien Lugtenberg, Arjan P M de Brouwer, Astrid R Oudakker, et al.
Reproductive Biomedicine Online|November 2, 2019
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case seriesRoos M Smits, Manon S Oud, Lisenka E L M Vissers, et al.
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