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Developmental Disabilities Research Reviews
|
July 19, 2008
Genetic counseling for the 22q11.2 deletion
Donna M McDonald-McGinn, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
September 30, 2004
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion
Matthew A Deardorff, Melissa Maisenbacher, Elaine H Zackai
Clinical Dysmorphology
|
June 5, 2018
Robinow syndrome: a diagnosis at the fingertips
Chaya N Murali, Beth Keena, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
August 12, 2003
Clinical and molecular diagnosis should be consistent
Karen W Gripp, Elaine H Zackai, M Michael Cohen
Clinical and Diagnostic Laboratory Immunology
|
September 3, 2002
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia
Kathleen E Sullivan, Donna McDonald-McGinn, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
March 30, 2019
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
Theodore G Drivas, Jesse A Taylor, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
February 18, 2017
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, et al.
American Journal of Medical Genetics
|
November 20, 2002
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome
Doff B McElhinney, Michele Straka, Elizabeth Goldmuntz, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2020
Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis
Dong Li, Kaitlyn M Shen, Elaine H Zackai, et al.
American Journal of Medical Genetics. Part A
|
August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother
Ralph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
Page
of 32
Search research articles
Search
Showing results (1-10 of 318) with videos related to
Sort By:
Page
of 32
Developmental Disabilities Research Reviews
|
July 19, 2008
Genetic counseling for the 22q11.2 deletion
Donna M McDonald-McGinn, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
September 30, 2004
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion
Matthew A Deardorff, Melissa Maisenbacher, Elaine H Zackai
Clinical Dysmorphology
|
June 5, 2018
Robinow syndrome: a diagnosis at the fingertips
Chaya N Murali, Beth Keena, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
August 12, 2003
Clinical and molecular diagnosis should be consistent
Karen W Gripp, Elaine H Zackai, M Michael Cohen
Clinical and Diagnostic Laboratory Immunology
|
September 3, 2002
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia
Kathleen E Sullivan, Donna McDonald-McGinn, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
March 30, 2019
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
Theodore G Drivas, Jesse A Taylor, Elaine H Zackai
American Journal of Medical Genetics. Part A
|
February 18, 2017
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, et al.
American Journal of Medical Genetics
|
November 20, 2002
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome
Doff B McElhinney, Michele Straka, Elizabeth Goldmuntz, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2020
Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis
Dong Li, Kaitlyn M Shen, Elaine H Zackai, et al.
American Journal of Medical Genetics. Part A
|
August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother
Ralph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
Page
of 32