Results
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Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. [electronic resource] by
- Mensenkamp, Arjen R
- Vogelaar, Ingrid P
- van Zelst-Stams, Wendy A G
- Goossens, Monique
- Ouchene, Hicham
- Hendriks-Cornelissen, Sandra J B
- Kwint, Michael P
- Hoogerbrugge, Nicoline
- Nagtegaal, Iris D
- Ligtenberg, Marjolijn J L
Producer: 20140527
In:
Gastroenterology vol. 146
Availability: No items available.
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Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability. [electronic resource] by
- Iqbal, Zafar
- Neveling, Kornelia
- Razzaq, Attia
- Shahzad, Mohsin
- Zahoor, Muhammad Yasir
- Qasim, Muhammad
- Gilissen, Christian
- Wieskamp, Nienke
- Kwint, Michael P
- Gijsen, Sabine
- de Brouwer, Arjan P M
- Veltman, Joris A
- Riazuddin, Sheikh
- van Bokhoven, Hans
Producer: 20121126
In:
Archives of medical research vol. 43
Availability: No items available.
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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome. [electronic resource] by
- Willemsen, Michèl A
- Vissers, Lisenka Elm
- Verbeek, Marcel M
- van Bon, Bregje W
- Geuer, Sinje
- Gilissen, Christian
- Klepper, Joerg
- Kwint, Michael P
- Leen, Wilhelmina G
- Pennings, Maartje
- Wevers, Ron A
- Veltman, Joris A
- Kamsteeg, Erik-Jan
Producer: 20170912
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. [electronic resource] by
- Coman, David
- Vissers, Lisenka E L M
- Riley, Lisa G
- Kwint, Michael P
- Hauck, Roxanna
- Koster, Janet
- Geuer, Sinje
- Hopkins, Sarah
- Hallinan, Barbra
- Sweetman, Larry
- Engelke, Udo F H
- Burrow, T Andrew
- Cardinal, John
- McGill, James
- Inwood, Anita
- Gurnsey, Christine
- Waterham, Hans R
- Christodoulou, John
- Wevers, Ron A
- Pitt, James
Producer: 20190514
In:
American journal of human genetics vol. 103
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. [electronic resource] by
- Pfundt, Rolph
- Del Rosario, Marisol
- Vissers, Lisenka E L M
- Kwint, Michael P
- Janssen, Irene M
- de Leeuw, Nicole
- Yntema, Helger G
- Nelen, Marcel R
- Lugtenberg, Dorien
- Kamsteeg, Erik-Jan
- Wieskamp, Nienke
- Stegmann, Alexander P A
- Stevens, Servi J C
- Rodenburg, Richard J T
- Simons, Annet
- Mensenkamp, Arjen R
- Rinne, Tuula
- Gilissen, Christian
- Scheffer, Hans
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Producer: 20180213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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9.
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. [electronic resource] by
- Estrada-Cuzcano, Alejandro
- Neveling, Kornelia
- Kohl, Susanne
- Banin, Eyal
- Rotenstreich, Ygal
- Sharon, Dror
- Falik-Zaccai, Tzipora C
- Hipp, Stephanie
- Roepman, Ronald
- Wissinger, Bernd
- Letteboer, Stef J F
- Mans, Dorus A
- Blokland, Ellen A W
- Kwint, Michael P
- Gijsen, Sabine J
- van Huet, Ramon A C
- Collin, Rob W J
- Scheffer, H
- Veltman, Joris A
- Zrenner, Eberhart
- den Hollander, Anneke I
- Klevering, B Jeroen
- Cremers, Frans P M
Producer: 20120312
In:
American journal of human genetics vol. 90
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Next-generation genetic testing for retinitis pigmentosa. [electronic resource] by
- Neveling, Kornelia
- Collin, Rob W J
- Gilissen, Christian
- van Huet, Ramon A C
- Visser, Linda
- Kwint, Michael P
- Gijsen, Sabine J
- Zonneveld, Marijke N
- Wieskamp, Nienke
- de Ligt, Joep
- Siemiatkowska, Anna M
- Hoefsloot, Lies H
- Buckley, Michael F
- Kellner, Ulrich
- Branham, Kari E
- den Hollander, Anneke I
- Hoischen, Alexander
- Hoyng, Carel
- Klevering, B Jeroen
- van den Born, L Ingeborgh
- Veltman, Joris A
- Cremers, Frans P M
- Scheffer, Hans
Producer: 20120906
In:
Human mutation vol. 33
Availability: No items available.
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