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American Journal of Medical Genetics. Part A
|
April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach
Bruce Korf, Reza Ahmadian, Judith Allanson, et al.
European Journal of Human Genetics : EJHG
|
December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
Clinical Genetics
|
March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
The Journal of Clinical Investigation
|
February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Justin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2026
The 9th International RASopathies Symposium
Pau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Communications
|
February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A
|
December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practice
Karen W Gripp, Lisa Schill, Lisa Schoyer, et al.
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Search research articles
Search
Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
American Journal of Medical Genetics. Part A
|
April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach
Bruce Korf, Reza Ahmadian, Judith Allanson, et al.
European Journal of Human Genetics : EJHG
|
December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
Clinical Genetics
|
March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
The Journal of Clinical Investigation
|
February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Justin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2026
The 9th International RASopathies Symposium
Pau Castel, Lisa Schoyer, Beth Stronach, et al.
Nature Communications
|
February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A
|
December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practice
Karen W Gripp, Lisa Schill, Lisa Schoyer, et al.
Page
of 3