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Cell Reports
|
June 11, 2013
TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium
Christian Alexandro Clement, Katrine Dalsgaard Ajbro, Karen Koefoed, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
Karina Meden Sørensen, Milad El-Segaier, Eva Fernlund, et al.
European Journal of Human Genetics : EJHG
|
March 11, 2026
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
Muhammad Farooq, Gitte Hoffmann Bruun, Menachem V K Sarusie, et al.
Frontiers in Cell and Developmental Biology
|
June 26, 2026
ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology
Csenge Kata Rezi, Canan Doganli, Mariam G Aslanyan, et al.
American Journal of Human Genetics
|
May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humans
Bernard Thienpont, Litu Zhang, Alex V Postma, et al.
Clinical and Translational Medicine
|
February 8, 2024
Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition
Charlotte Harken Jensen, Rikke Helin Johnsen, Tilde Eskildsen, et al.
Nature Communications
|
November 17, 2020
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, et al.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Plos Genetics
|
September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics
|
July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
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Showing results (41-50 of 50) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 50 results.
Cell Reports
|
June 11, 2013
TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium
Christian Alexandro Clement, Katrine Dalsgaard Ajbro, Karen Koefoed, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
Karina Meden Sørensen, Milad El-Segaier, Eva Fernlund, et al.
European Journal of Human Genetics : EJHG
|
March 11, 2026
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
Muhammad Farooq, Gitte Hoffmann Bruun, Menachem V K Sarusie, et al.
Frontiers in Cell and Developmental Biology
|
June 26, 2026
ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology
Csenge Kata Rezi, Canan Doganli, Mariam G Aslanyan, et al.
American Journal of Human Genetics
|
May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humans
Bernard Thienpont, Litu Zhang, Alex V Postma, et al.
Clinical and Translational Medicine
|
February 8, 2024
Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition
Charlotte Harken Jensen, Rikke Helin Johnsen, Tilde Eskildsen, et al.
Nature Communications
|
November 17, 2020
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, et al.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Plos Genetics
|
September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics
|
July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
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