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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 disordersFady 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 systemFady 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 weeksS 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 dysmorphismYunjia 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 trialM A Graham, S Senan, H Robin, et al.
Human Genetics|October 6, 1998
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangementsA Kumar, L A Becker, T W Depinet, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
Utilizing high-fidelity crucial conversation simulation in genetic counseling trainingR Lynn Holt, Nancy M Tofil, Christina Hurst, et al.
Clinical Ophthalmology (Auckland, N.Z.)|January 15, 2021
Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)Robert E Morris, Edward Scott Parma, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testingDana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.
Human Molecular Genetics|March 1, 1995
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndromeU Schell, A Hehr, G J Feldman, et al.
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