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Cold Spring Harbor molecular case studies

Showing results (171-180 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 9, 2023
A familial <i>SAMD9</i> variant present in pediatric myelodysplastic syndromeMahvish Q Rahim, April Rahrig, Kathleen Overholt, et al.
Cold Spring Harbor Molecular Case Studies|May 9, 2023
Melanoma in a patient with DNMT3A overgrowth syndromeDavid Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Failure of tofacitinib to achieve an objective response in a <i>DDX3X-MLLT10</i> T-lymphoblastic leukemia with activating <i>JAK3</i> mutationsJonathan Wong, Meaghan Wall, Gregory Philip Corboy, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4Erica Sanford, Terence Wong, Katarzyna A Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2020
SLC6A1 G443D associated with developmental delay and epilepsySeth Devries, Monica Mulder, Jacob G Charron, et al.
Cold Spring Harbor Molecular Case Studies|July 30, 2020
Diagnostic utility of genetic testing in patients undergoing renal biopsyKatherine A Benson, Susan L Murray, Ross Doyle, et al.
Cold Spring Harbor Molecular Case Studies|April 22, 2021
Expanding the genotypic spectrum of <i>ACTG2</i>-related visceral myopathyKiely N James, Megan Lau, Katayoon Shayan, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutationMeghan R Sullivan, Rohit Prakash, Yashpal Rawal, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignanciesEmilie Lalonde, Stefan Rentas, Gerald Wertheim, et al.
Cold Spring Harbor Molecular Case Studies|October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary systemSwetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Pageof 48

Showing results (171-180 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 9, 2023
A familial <i>SAMD9</i> variant present in pediatric myelodysplastic syndromeMahvish Q Rahim, April Rahrig, Kathleen Overholt, et al.
Cold Spring Harbor Molecular Case Studies|May 9, 2023
Melanoma in a patient with DNMT3A overgrowth syndromeDavid Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Failure of tofacitinib to achieve an objective response in a <i>DDX3X-MLLT10</i> T-lymphoblastic leukemia with activating <i>JAK3</i> mutationsJonathan Wong, Meaghan Wall, Gregory Philip Corboy, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4Erica Sanford, Terence Wong, Katarzyna A Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2020
SLC6A1 G443D associated with developmental delay and epilepsySeth Devries, Monica Mulder, Jacob G Charron, et al.
Cold Spring Harbor Molecular Case Studies|July 30, 2020
Diagnostic utility of genetic testing in patients undergoing renal biopsyKatherine A Benson, Susan L Murray, Ross Doyle, et al.
Cold Spring Harbor Molecular Case Studies|April 22, 2021
Expanding the genotypic spectrum of <i>ACTG2</i>-related visceral myopathyKiely N James, Megan Lau, Katayoon Shayan, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutationMeghan R Sullivan, Rohit Prakash, Yashpal Rawal, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignanciesEmilie Lalonde, Stefan Rentas, Gerald Wertheim, et al.
Cold Spring Harbor Molecular Case Studies|October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary systemSwetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Pageof 48