Publications:

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Kidney International Reports

Al Alawi, Intisar I; Al Salmi, Issa I; Al Rahbi, Fatma F; Al Riyami, Mohamed M; Al Kalbani, Naifain N; Al Ghaithi, Badria B; Al Mawali, Adhra A; Sayer, John A JA

Publication Date: 2019-12

Variant appearance in text: PKD1: 9340C>T; Gln3114*

PubMed Link: 31844813

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: PKD1: Q3114X

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Choi, Rihwa R; Park, Hayne Cho HC; Lee, Kyunghoon K; Lee, Myoung-Gun MG; Kim, Jong-Won JW; Ki, Chang-Seok CS; Hwang, Young-Hwan YH; Ahn, Curie C

Publication Date: 2014-12-10

Variant appearance in text: PKD1: Gln3114*

PubMed Link: 25491204

Variant Present in the following documents:

• Main text
• 12881_2014_Article_129.pdf

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