Search research articles
Contact Us
Filters
Showing results (1-10 of 26) with videos related to
Page
of 3
Sort By:
Orphanet Journal of Rare Diseases
|
March 25, 2009
Sheldon-Hall syndrome
Reha M Toydemir, Michael J Bamshad
American Journal of Medical Genetics. Part A
|
March 28, 2017
Clinical features of trisomy 12 mosaicism-Report and review
Bo Hong, Janice Zunich, Amanda Openshaw, et al.
Gastroenterology
|
September 8, 2017
Developmental Delay and Colon Polyposis
N Jewel Samadder, Randall W Burt, Reha M Toydemir
American Journal of Clinical Pathology
|
June 24, 2021
Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease
David P Ng, Rodney R Miles, Erica F Andersen, et al.
Cytogenetic and Genome Research
|
November 16, 2018
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey
Prabakaran Paulraj, Janice C Palumbos, Amanda Openshaw, et al.
Molecular Syndromology
|
September 9, 2020
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
Reha M Toydemir, Emanuele Panza, Maria C Longhurst, et al.
Frontiers in Genetics
|
February 27, 2023
Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2018
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
Sarah L Dugan, Emanuele Panza, Amanda Openshaw, et al.
Cancer Genetics
|
July 8, 2021
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma
Kristian T Schafernak, James A Williams, Benjamin I Clyde, et al.
Nature Genetics
|
April 28, 2006
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
Reha M Toydemir, Ann Rutherford, Frank G Whitby, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Orphanet Journal of Rare Diseases
|
March 25, 2009
Sheldon-Hall syndrome
Reha M Toydemir, Michael J Bamshad
American Journal of Medical Genetics. Part A
|
March 28, 2017
Clinical features of trisomy 12 mosaicism-Report and review
Bo Hong, Janice Zunich, Amanda Openshaw, et al.
Gastroenterology
|
September 8, 2017
Developmental Delay and Colon Polyposis
N Jewel Samadder, Randall W Burt, Reha M Toydemir
American Journal of Clinical Pathology
|
June 24, 2021
Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease
David P Ng, Rodney R Miles, Erica F Andersen, et al.
Cytogenetic and Genome Research
|
November 16, 2018
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey
Prabakaran Paulraj, Janice C Palumbos, Amanda Openshaw, et al.
Molecular Syndromology
|
September 9, 2020
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
Reha M Toydemir, Emanuele Panza, Maria C Longhurst, et al.
Frontiers in Genetics
|
February 27, 2023
Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2018
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
Sarah L Dugan, Emanuele Panza, Amanda Openshaw, et al.
Cancer Genetics
|
July 8, 2021
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma
Kristian T Schafernak, James A Williams, Benjamin I Clyde, et al.
Nature Genetics
|
April 28, 2006
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
Reha M Toydemir, Ann Rutherford, Frank G Whitby, et al.
Page
of 3