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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 - 7 (of 7 Records)

Query Trace: Disease and TMEM67[original query]
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Journal of medical genetics 2012 Dec 49 (12): 756-67.
Halbritter Jan, Diaz Katrina, Chaki Moumita, Porath Jonathan D, Tarrier Brendan, Fu Clementine, Innis Jamie L, Allen Susan J, Lyons Robert H, Stefanidis Constantinos J, Omran Heymut, Soliman Neveen A, Otto Edgar
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
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Journal of pediatric gastroenterology and nutrition 2017 11 66 (3): 428-435.
Strongin Anna, Heller Theo, Doherty Dan, Glass Ian A, Parisi Melissa A, Bryant Joy, Choyke Peter, Turkbey Baris, Daryanani Kailash, Yildirimli Deniz, Vemulapalli Meghana, Mullikin Jim C, Malicdan May C, Vilboux Thierry, Gahl William A, Gunay-Aygun Meral,
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
Journal of medical genetics 2017 11 55 (3): 189-197.
Y?ld?z Bölükba?? Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Asl?h
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,
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Jul 39 (7): 754-758.
Li Hao, Hu Zhangx
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