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American Journal of Human Genetics
|
March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
Jutta Becker, Oliver Semler, Christian Gilissen, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2022
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
Wolfgang H Ziegler, Sarah Lüdiger, Fatima Hassan, et al.
Human Mutation
|
April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
Elife
|
February 12, 2026
BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
Uyen Tran, Andrew J Streets, Devon Smith, et al.
American Journal of Human Genetics
|
March 19, 2002
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Luiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al.
Kidney International Reports
|
August 19, 2024
Pathogenic PHIP Variants are Variably Associated With CAKUT
Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, et al.
Klinische Padiatrie
|
July 14, 2020
[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies]
Charlotte Gimpel, Carsten Bergmann, Florian Brinkert, et al.
Kidney International Reports
|
May 7, 2026
German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease
Kay Latta, Jan Boeckhaus, Ina Weinreich, et al.
Human Mutation
|
April 27, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
Carsten Bergmann, Jan Senderek, Fabian Küpper, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndrome
Leonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Page
of 23
Search research articles
Search
Showing results (151-160 of 228) with videos related to
Sort By:
Page
of 23
American Journal of Human Genetics
|
March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
Jutta Becker, Oliver Semler, Christian Gilissen, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2022
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
Wolfgang H Ziegler, Sarah Lüdiger, Fatima Hassan, et al.
Human Mutation
|
April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
Elife
|
February 12, 2026
BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
Uyen Tran, Andrew J Streets, Devon Smith, et al.
American Journal of Human Genetics
|
March 19, 2002
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Luiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al.
Kidney International Reports
|
August 19, 2024
Pathogenic PHIP Variants are Variably Associated With CAKUT
Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, et al.
Klinische Padiatrie
|
July 14, 2020
[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies]
Charlotte Gimpel, Carsten Bergmann, Florian Brinkert, et al.
Kidney International Reports
|
May 7, 2026
German Clinical Practice Guideline on Microhematuria in Children and Young Adults: Evaluating Early Detection of Kidney Disease
Kay Latta, Jan Boeckhaus, Ina Weinreich, et al.
Human Mutation
|
April 27, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
Carsten Bergmann, Jan Senderek, Fabian Küpper, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2013
A de novo GLI3 mutation in a patient with acrocallosal syndrome
Leonie Speksnijder, Titia E Cohen-Overbeek, Maarten F C M Knapen, et al.
Page
of 23