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American Journal of Medical Genetics
|
January 2, 1996
Frontonasal malformation and cloacal exstrophy: a previously unreported association
N H Robin, J A Neidich, L D Bason, et al.
Nature Genetics
|
November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
M Muenke, U Schell, A Hehr, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2022
Near complete deletion of KMT2D in a college student
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
January 1, 1997
Phase I and pharmacokinetic study of tirapazamine (SR 4233) administered every three weeks
S Senan, R Rampling, M A Graham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Yunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
Cancer Chemotherapy and Pharmacology
|
January 1, 1997
Pharmacokinetics of the hypoxic cell cytotoxic agent tirapazamine and its major bioreductive metabolites in mice and humans: retrospective analysis of a pharmacokinetically guided dose-escalation strategy in a phase I trial
M A Graham, S Senan, H Robin, et al.
Chest
|
June 25, 2008
Genetic and reproductive knowledge among adolescents and adults with cystic fibrosis
Grace H Houser, Cheryl L Holt, J P Clancy, et al.
Human Genetics
|
October 6, 1998
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements
A Kumar, L A Becker, T W Depinet, et al.
Page
of 30
Search research articles
Search
Showing results (241-250 of 297) with videos related to
Sort By:
Page
of 30
American Journal of Medical Genetics
|
January 2, 1996
Frontonasal malformation and cloacal exstrophy: a previously unreported association
N H Robin, J A Neidich, L D Bason, et al.
Nature Genetics
|
November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
M Muenke, U Schell, A Hehr, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2022
Near complete deletion of KMT2D in a college student
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
January 1, 1997
Phase I and pharmacokinetic study of tirapazamine (SR 4233) administered every three weeks
S Senan, R Rampling, M A Graham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Yunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
Cancer Chemotherapy and Pharmacology
|
January 1, 1997
Pharmacokinetics of the hypoxic cell cytotoxic agent tirapazamine and its major bioreductive metabolites in mice and humans: retrospective analysis of a pharmacokinetically guided dose-escalation strategy in a phase I trial
M A Graham, S Senan, H Robin, et al.
Chest
|
June 25, 2008
Genetic and reproductive knowledge among adolescents and adults with cystic fibrosis
Grace H Houser, Cheryl L Holt, J P Clancy, et al.
Human Genetics
|
October 6, 1998
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements
A Kumar, L A Becker, T W Depinet, et al.
Page
of 30