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Shimul Chowdhury

Showing results (1-10 of 49) with videos related to

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Blood|July 20, 2007
Decreased expression of tumor necrosis factor family receptors involved in humoral immune responses in preterm neonatesKulwant Kaur, Shimul Chowdhury, Neil S Greenspan, et al.
Clinics in Laboratory Medicine|February 10, 2023
Artificial Intelligence in the Genetic Diagnosis of Rare DiseaseKiely N James, Sujal Phadke, Terence C Wong, et al.
Clinical Case Reports|August 2, 2023
Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotypeAna Maria Rodriguez, Katherine Schain, Parul Jayakar, et al.
Cold Spring Harbor Molecular Case Studies|October 29, 2020
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in <i>HSD17B4</i> resulting in D-bifunctional protein deficiency disorder diagnosisLane Savage, Stacie D Adams, Kiely James, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|January 22, 2011
Maternal DNA hypomethylation and congenital heart defectsShimul Chowdhury, Mario A Cleves, Stewart L MacLeod, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Rapid whole-genome sequencing identifies a novel <i>GABRA1</i> variant associated with West syndromeLauge Farnaes, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
Clinical Case Reports|December 3, 2019
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancySejal Kadakia, Lauge Farnaes, David Dimmock, et al.
Plos One|February 8, 2011
Maternal genome-wide DNA methylation patterns and congenital heart defectsShimul Chowdhury, Stephen W Erickson, Stewart L MacLeod, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Blood|July 20, 2007
Decreased expression of tumor necrosis factor family receptors involved in humoral immune responses in preterm neonatesKulwant Kaur, Shimul Chowdhury, Neil S Greenspan, et al.
Clinics in Laboratory Medicine|February 10, 2023
Artificial Intelligence in the Genetic Diagnosis of Rare DiseaseKiely N James, Sujal Phadke, Terence C Wong, et al.
Clinical Case Reports|August 2, 2023
Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotypeAna Maria Rodriguez, Katherine Schain, Parul Jayakar, et al.
Cold Spring Harbor Molecular Case Studies|October 29, 2020
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in <i>HSD17B4</i> resulting in D-bifunctional protein deficiency disorder diagnosisLane Savage, Stacie D Adams, Kiely James, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|January 22, 2011
Maternal DNA hypomethylation and congenital heart defectsShimul Chowdhury, Mario A Cleves, Stewart L MacLeod, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Rapid whole-genome sequencing identifies a novel <i>GABRA1</i> variant associated with West syndromeLauge Farnaes, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
Clinical Case Reports|December 3, 2019
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancySejal Kadakia, Lauge Farnaes, David Dimmock, et al.
Plos One|February 8, 2011
Maternal genome-wide DNA methylation patterns and congenital heart defectsShimul Chowdhury, Stephen W Erickson, Stewart L MacLeod, et al.
Pageof 5