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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 4, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology
Katelyn Dannheim, Grant Eilers, Nathan C Page, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
Karen W Gripp, Angela E Lin, Deborah L Stabley, et al.
European Journal of Human Genetics : EJHG
|
June 13, 2018
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
Whitney L Wooderchak-Donahue, Peter Johnson, Jamie McDonald, et al.
Pediatric Transplantation
|
July 2, 2019
Cardiac transplantation in children with Noonan syndrome
Leslie M McCallen, Rebecca K Ameduri, Susan W Denfield, et al.
Cell Genomics
|
August 7, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types
Laura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2008
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
Angela E Lin, Craig T Basson, Elizabeth Goldmuntz, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2003
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
Seema R Lalani, David W Stockton, Carlos Bacino, et al.
Biorxiv : the Preprint Server for Biology
|
April 2, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses <i>in vivo</i> and <i>in vitro</i> in four human cell types
Laura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Obstetrics and Gynecology
|
December 7, 2019
Risk of Stillbirth for Fetuses With Specific Birth Defects
Dominique Heinke, Eirini Nestoridi, Sonia Hernandez-Diaz, et al.
Birth Defects Research
|
August 30, 2024
Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects
Adrian M Michalski, Thomas J Luben, Ibrahim Zaganjor, et al.
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of 17
Search research articles
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Showing results (121-130 of 170) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
December 4, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology
Katelyn Dannheim, Grant Eilers, Nathan C Page, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
Karen W Gripp, Angela E Lin, Deborah L Stabley, et al.
European Journal of Human Genetics : EJHG
|
June 13, 2018
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
Whitney L Wooderchak-Donahue, Peter Johnson, Jamie McDonald, et al.
Pediatric Transplantation
|
July 2, 2019
Cardiac transplantation in children with Noonan syndrome
Leslie M McCallen, Rebecca K Ameduri, Susan W Denfield, et al.
Cell Genomics
|
August 7, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types
Laura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2008
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
Angela E Lin, Craig T Basson, Elizabeth Goldmuntz, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2003
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
Seema R Lalani, David W Stockton, Carlos Bacino, et al.
Biorxiv : the Preprint Server for Biology
|
April 2, 2024
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses <i>in vivo</i> and <i>in vitro</i> in four human cell types
Laura V Blanton, Adrianna K San Roman, Geryl Wood, et al.
Obstetrics and Gynecology
|
December 7, 2019
Risk of Stillbirth for Fetuses With Specific Birth Defects
Dominique Heinke, Eirini Nestoridi, Sonia Hernandez-Diaz, et al.
Birth Defects Research
|
August 30, 2024
Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects
Adrian M Michalski, Thomas J Luben, Ibrahim Zaganjor, et al.
Page
of 17