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Cathy A Stevens

Showing results (31-40 of 43) with videos related to

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American Journal of Medical Genetics. Part A|August 1, 2012
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical regionEugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|August 1, 2012
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical regionEugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Pageof 5