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Medrxiv : the Preprint Server for Health Sciences
|
February 10, 2021
A Molecular network approach reveals shared cellular and molecular signatures between chronic fatigue syndrome and other fatiguing illnesses
Phillip H Comella, Edgar Gonzalez-Kozlova, Roman Kosoy, et al.
American Journal of Human Genetics
|
February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
Nature Genetics
|
February 28, 2006
Mutations in different components of FGF signaling in LADD syndrome
Edyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
American Journal of Human Genetics
|
April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
Yun Li, Barbara Pawlik, Nursel Elcioglu, et al.
The Journal of Allergy and Clinical Immunology
|
April 7, 2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency
Omar K Alkhairy, Ruy Perez-Becker, Gertjan J Driessen, et al.
Molecular Vision
|
June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
John Neidhardt, Esther Glaus, Birgit Lorenz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Nature Genetics
|
July 17, 2007
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Stephan Buch, Clemens Schafmayer, Henry Völzke, 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.
Journal for Immunotherapy of Cancer
|
October 23, 2020
Immune checkpoint inhibition therapy for advanced skin cancer in patients with concomitant hematological malignancy: a retrospective multicenter DeCOG study of 84 patients
Ulrike Leiter, Carmen Loquai, Lydia Reinhardt, et al.
Page
of 30
Search research articles
Search
Showing results (261-270 of 296) with videos related to
Sort By:
Page
of 30
Medrxiv : the Preprint Server for Health Sciences
|
February 10, 2021
A Molecular network approach reveals shared cellular and molecular signatures between chronic fatigue syndrome and other fatiguing illnesses
Phillip H Comella, Edgar Gonzalez-Kozlova, Roman Kosoy, et al.
American Journal of Human Genetics
|
February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
Nature Genetics
|
February 28, 2006
Mutations in different components of FGF signaling in LADD syndrome
Edyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
American Journal of Human Genetics
|
April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
Yun Li, Barbara Pawlik, Nursel Elcioglu, et al.
The Journal of Allergy and Clinical Immunology
|
April 7, 2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency
Omar K Alkhairy, Ruy Perez-Becker, Gertjan J Driessen, et al.
Molecular Vision
|
June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
John Neidhardt, Esther Glaus, Birgit Lorenz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Nature Genetics
|
July 17, 2007
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Stephan Buch, Clemens Schafmayer, Henry Völzke, 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.
Journal for Immunotherapy of Cancer
|
October 23, 2020
Immune checkpoint inhibition therapy for advanced skin cancer in patients with concomitant hematological malignancy: a retrospective multicenter DeCOG study of 84 patients
Ulrike Leiter, Carmen Loquai, Lydia Reinhardt, et al.
Page
of 30