E-LIB Suche - Ergebnisse für: Cheung, Sau W.

1

Cytogenetically visible inversions are formed by multiple m..:

Pettersson, Maria ; Grochowski, Christopher M. ; Wincent, Josephine...
Human Mutation. 41 (2020) 11 - p. 1979-1998 , 2020

Link: https://doi.org/10.1002/..

2

A new microdeletion syndrome involving TBC1D24, ATP6V0C, an..:

Mucha, Bettina E. ; Banka, Siddharth ; Ajeawung, Norbert Fonya...
Genetics in Medicine. 21 (2019) 5 - p. 1058-1064 , 2019

Link: https://doi.org/10.1038/..

3

Correction: A new microdeletion syndrome involving TBC1D24,..:

Mucha, Bettina E. ; Banka, Siddharth ; Ajeawung, Norbert Fonya...
Genetics in Medicine. 21 (2019) 9 - p. 2159-2160 , 2019

Link: https://doi.org/10.1038/..

4

Microarray analysis: First‐trimester maternal serum free β‐..:

Bornstein, Eran ; Gulersen, Moti ; Krantz, David...
Prenatal Diagnosis. 38 (2018) 12 - p. 971-978 , 2018

Link: https://doi.org/10.1002/..

5

Unexpected Chromosomal Abnormalities Identified by CMA Conf..:

Cheung, Sau W. ; Pursley, Amber N. ; Ladha, Farah A....
Cancer Genetics. 209 (2016) 5 - p. 239 , 2016

Link: https://doi.org/10.1016/..

6

Copy number variants in patients with intellectual disabili..:

Ishibashi, Minaka ; Manning, Elizabeth ; Shoubridge, Cheryl...
Human Genetics. 134 (2015) 11-12 - p. 1163-1182 , 2015

Link: https://doi.org/10.1007/..

7

NUDT21-spanning CNVs lead to neuropsychiatric disease and a..:

Gennarino, Vincenzo A ; Alcott, Callison E ; Chen, Chun-An...
eLife. 4 (2015) - p. , 2015

Link: https://doi.org/10.7554/..

8

Genitourinary Defects Associated with Genomic Deletions in ..:

Jorgez, Carolina J. ; Rosenfeld, Jill A. ; Wilken, Nathan R....
PLoS ONE. 9 (2014) 9 - p. e107028 , 2014

Link: https://doi.org/10.1371/..

9

A mosaic 2q24.2 deletion narrows the critical region to a 0..:

Burrage, Lindsay C. ; Eble, Tanya N. ; Hixson, Patricia M....
American Journal of Medical Genetics Part A. 161 (2013) 4 - p. 841-844 , 2013

Link: https://doi.org/10.1002/..

10

MCTP2 is a dosage-sensitive gene required for cardiac outfl..:

Lalani, Seema R. ; Ware, Stephanie M. ; Wang, Xueqing...
Human Molecular Genetics. 22 (2013) 21 - p. 4339-4348 , 2013

Link: https://doi.org/10.1093/..

11

Expanding the genotype–phenotype correlation in subtelomeri..:

Peddibhotla, Sirisha ; Khalifa, Mohamed ; Probst, Frank J....
American Journal of Medical Genetics Part A. 161 (2013) 12 - p. 2953-2963 , 2013

Link: https://doi.org/10.1002/..

12

Prenatal chromosomal microarray analysis in a diagnostic la..:

Breman, Amy ; Pursley, Amber N. ; Hixson, Patricia...
Prenatal Diagnosis. 32 (2012) 4 - p. 351-361 , 2012

Link: https://doi.org/10.1002/..

13

26: Prenatal array comparative genomic hybridization: when ..:

Cheung, Sau W. ; Breman, Amy ; Pursley, Amber N....
American Journal of Obstetrics and Gynecology. 206 (2012) 1 - p. S17 , 2012

Link: https://doi.org/10.1016/..

14

Observation and prediction of recurrent human translocation..:

Ou, Zhishuo ; Stankiewicz, Paweł ; Xia, Zhilian...
Genome Research. 21 (2011) 1 - p. 33-46 , 2011

Link: https://doi.org/10.1101/..

15

De novo and complex imbalanced chromosomal rearrangements r..:

Jiang, Yong‐Hui ; Martinez, Jose E. ; Ou, Zhishuo...
American Journal of Medical Genetics Part A. 146A (2008) 15 - p. 1986-1993 , 2008

Link: https://doi.org/10.1002/..