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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Counseling and TMEM67[original query]
Joubert syndrome: genotyping a Northern European patient cohort.
European journal of human genetics : EJHG 2015 Apr .
Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan .
Vilboux Thierry, Doherty Daniel A, Glass Ian A, Parisi Melissa A, Phelps Ian G, Cullinane Andrew R, Zein Wadih, Brooks Brian P, Heller Theo, Soldatos Ariane, Oden Neal L, Yildirimli Deniz, Vemulapalli Meghana, Mullikin James C, Nisc Comparative Sequencing Program , Malicdan May Christine V, Gahl William A, Gunay-Aygun Mer
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
Kidney international reports 2022 9 7 (9): 2016-2028.
König Jens Christian, Karsay Rebeka, Gerß Joachim, Schlingmann Karl-Peter, Dahmer-Heath Mareike, Telgmann Anna-Katharina, Kollmann Sabine, Ariceta Gema, Gillion Valentine, Bockenhauer Detlef, Bertholet-Thomas Aurélia, Mastrangelo Antonio, Boyer Olivia, Lilien Marc, Decramer Stéphane, Schanstra Joost P, Pohl Martin, Schild Raphael, Weber Stefanie, Hoefele Julia, Drube Jens, Cetiner Metin, Hansen Matthias, Thumfart Julia, Tönshoff Burkhard, Habbig Sandra, Liebau Max Christoph, Bald Martin, Bergmann Carsten, Pennekamp Petra, Konrad Martin,
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