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Genetics in Medicine (5)
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Research | 4 November 2019
Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q)
Modern Pathology , 1–10

Rights & permissionsfor article Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q) . Opens in a new window.
21 January 2016
Response to Sahoo et al.
Genetics in Medicine 18 , 277–277

Rights & permissionsfor article Response to Sahoo et al. . Opens in a new window.
8 January 2015
Maternal cell-free DNA–based screening for fetal microdeletion and the importance of careful diagnostic follow-up
Genetics in Medicine 17 , 836–838

Rights & permissionsfor article Maternal cell-free DNA–based screening for fetal microdeletion and the importance of careful diagnostic follow-up . Opens in a new window.
Research | 5 April 2019
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency
Genetics in Medicine 21 , 2275–2284

Rights & permissionsfor article A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency . Opens in a new window.
21 June 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
- Ian M. Campbell
- , Svetlana A. Yatsenko
- , Patricia Hixson
- , Tyler Reimschisel
- , Matthew Thomas
- , William Wilson
- , Usha Dayal
- , James W. Wheless
- , Amy Crunk
- , Cynthia Curry
- , Nicole Parkinson
- , Leona Fishman
- , James J. Riviello
- , Malgorzata J.M. Nowaczyk
- , Susan Zeesman
- , Jill A. Rosenfeld
- , Bassem A. Bejjani
- , Lisa G. Shaffer
- , Sau Wai Cheung
- , James R. Lupski
- , Pawel Stankiewicz
- & Fernando Scaglia
Genetics in Medicine 14 , 868–876

Rights & permissionsfor article Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A . Opens in a new window.
Research | 23 March 2016
Expansion of phenotype and genotypic data in CRB2-related syndrome
- Ryan E Lamont
- , Wen-Hann Tan
- , A Micheil Innes
- , Jillian S Parboosingh
- , Dina Schneidman-Duhovny
- , Aleksandar Rajkovic
- , John Pappas
- , Pablo Altschwager
- , Stephanie DeWard
- , Anne Fulton
- , Kathryn J Gray
- , Max Krall
- , Lakshmi Mehta
- , Lance H Rodan
- , Devereux N Saller Jr
- , Deanna Steele
- , Deborah Stein
- , Svetlana A Yatsenko
- , François P Bernier
- & Anne M Slavotinek
European Journal of Human Genetics 24 , 1436–1444

Rights & permissionsfor article Expansion of phenotype and genotypic data in CRB2-related syndrome . Opens in a new window.
Research | 1 July 2005
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
- Sau W Cheung
- , Chad A Shaw
- , Wei Yu
- , Jiangzham Li
- , Zhishuo Ou
- , Ankita Patel
- , Svetlana A Yatsenko
- , Mitchell L Cooper
- , Patti Furman
- , Pawal Stankiewicz
- , James R Lupski
- , A Craig Chinault
- & Arthur L Beaudet
Genetics in Medicine 7 , 422–432

Rights & permissionsfor article Development and validation of a CGH microarray for clinical cytogenetic diagnosis . Opens in a new window.

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Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q)

Response to Sahoo et al.

Maternal cell-free DNA–based screening for fetal microdeletion and the importance of careful diagnostic follow-up

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Expansion of phenotype and genotypic data in CRB2-related syndrome

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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