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American Journal of Human Genetics
|
July 19, 2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome
William E Dowdle, Jon F Robinson, Andreas Kneist, et al.
Human Mutation
|
April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Cell Reports
|
May 24, 2018
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
Markus M Rinschen, Markus Gödel, Florian Grahammer, et al.
Nature Reviews. Nephrology
|
May 24, 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
Charlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, et al.
Nature Genetics
|
November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Jan Senderek, Michael Krieger, Claudia Stendel, et al.
BMC Nephrology
|
April 18, 2015
Rationale, design and objectives of ARegPKD, a European ARPKD registry study
Kathrin Ebner, Markus Feldkoetter, Gema Ariceta, et al.
Journal of the American Society of Nephrology : JASN
|
July 10, 2010
Genetic variation of DKK3 may modify renal disease severity in ADPKD
Michelle Liu, Sally Shi, Sean Senthilnathan, et al.
American Journal of Human Genetics
|
March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Kidney International Reports
|
December 19, 2024
SGLT2-Inhibition in Patients With Alport Syndrome
Jan Boeckhaus, Daniel P Gale, James Simon, et al.
European Journal of Human Genetics : EJHG
|
July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Hélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Page
of 23
Search research articles
Search
Showing results (181-190 of 228) with videos related to
Sort By:
Page
of 23
American Journal of Human Genetics
|
July 19, 2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome
William E Dowdle, Jon F Robinson, Andreas Kneist, et al.
Human Mutation
|
April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Cell Reports
|
May 24, 2018
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
Markus M Rinschen, Markus Gödel, Florian Grahammer, et al.
Nature Reviews. Nephrology
|
May 24, 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
Charlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, et al.
Nature Genetics
|
November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Jan Senderek, Michael Krieger, Claudia Stendel, et al.
BMC Nephrology
|
April 18, 2015
Rationale, design and objectives of ARegPKD, a European ARPKD registry study
Kathrin Ebner, Markus Feldkoetter, Gema Ariceta, et al.
Journal of the American Society of Nephrology : JASN
|
July 10, 2010
Genetic variation of DKK3 may modify renal disease severity in ADPKD
Michelle Liu, Sally Shi, Sean Senthilnathan, et al.
American Journal of Human Genetics
|
March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Kidney International Reports
|
December 19, 2024
SGLT2-Inhibition in Patients With Alport Syndrome
Jan Boeckhaus, Daniel P Gale, James Simon, et al.
European Journal of Human Genetics : EJHG
|
July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Hélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Page
of 23