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Molecular Syndromology
|
October 23, 2014
Clinical and Molecular Findings of Tunisian Patients with RASopathies
Rim Louati, N Bouayed Abdelmoula, Imen Trabelsi, et al.
Human Mutation
|
September 18, 2022
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
Ernestine Treimer, Tugba Kalayci, Sven Schumann, et al.
Frontiers in Cell and Developmental Biology
|
November 4, 2022
Increased osteoclastogenesis contributes to bone loss in the Costello syndrome <i>Hras G12V</i> mouse model
Sayantan Nandi, Saravanakkumar Chennappan, Yannik Andrasch, et al.
Molecular and Cellular Biology
|
September 19, 2007
Biochemical and functional characterization of germ line KRAS mutations
Suzanne Schubbert, Gideon Bollag, Natalya Lyubynska, et al.
Human Mutation
|
October 16, 2010
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, et al.
The Turkish Journal of Pediatrics
|
February 2, 2010
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
Gülten Türkkani-Asal, Yasemin Alanay, Tuba Turul-Ozgür, et al.
Pediatrics and Neonatology
|
January 22, 2023
X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, et al.
Plos Genetics
|
May 8, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, et al.
In Vivo (Athens, Greece)
|
April 29, 2021
Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey
Reinhard E Friedrich, Jozef Zustin, Andreas M Luebke, et al.
The Journal of Pediatrics
|
April 13, 2012
Health and quality of life in adults with Noonan syndrome
Gerhard Binder, Sabrina Grathwol, Karoline von Loeper, et al.
Page
of 34
Search research articles
Search
Showing results (121-130 of 338) with videos related to
Sort By:
Page
of 34
Molecular Syndromology
|
October 23, 2014
Clinical and Molecular Findings of Tunisian Patients with RASopathies
Rim Louati, N Bouayed Abdelmoula, Imen Trabelsi, et al.
Human Mutation
|
September 18, 2022
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
Ernestine Treimer, Tugba Kalayci, Sven Schumann, et al.
Frontiers in Cell and Developmental Biology
|
November 4, 2022
Increased osteoclastogenesis contributes to bone loss in the Costello syndrome <i>Hras G12V</i> mouse model
Sayantan Nandi, Saravanakkumar Chennappan, Yannik Andrasch, et al.
Molecular and Cellular Biology
|
September 19, 2007
Biochemical and functional characterization of germ line KRAS mutations
Suzanne Schubbert, Gideon Bollag, Natalya Lyubynska, et al.
Human Mutation
|
October 16, 2010
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, et al.
The Turkish Journal of Pediatrics
|
February 2, 2010
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
Gülten Türkkani-Asal, Yasemin Alanay, Tuba Turul-Ozgür, et al.
Pediatrics and Neonatology
|
January 22, 2023
X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, et al.
Plos Genetics
|
May 8, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, et al.
In Vivo (Athens, Greece)
|
April 29, 2021
Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey
Reinhard E Friedrich, Jozef Zustin, Andreas M Luebke, et al.
The Journal of Pediatrics
|
April 13, 2012
Health and quality of life in adults with Noonan syndrome
Gerhard Binder, Sabrina Grathwol, Karoline von Loeper, et al.
Page
of 34