E-LIB Suche - Ergebnisse für: Collinson, Morag

1

Symmetrical enchondromatosis is associated with duplication..:

Collinson, Morag ; Leonard, Samantha J. ; Charlton, Jocelyn...
American Journal of Medical Genetics Part A. 152A (2010) 12 - p. 3124-3128 , 2010

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

2

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication:

Martinez-Falero, Beatriz Suarez ; Koutalopoulou, Anastasia ; Douglas, Andrew G. L....
Clinical and Experimental Dermatology. 47 (2022) 12 - p. 2342-2345 , 2022

Link: https://doi.org/10.1111/..

3

Exon-focused targeted oligonucleotide microarray design inc..:

Jezkova, Jana ; Heath, Jade ; Williams, Angharad...
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

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

4

Mosaic Turner syndrome shows reduced penetrance in an adult..:

Tuke, Marcus A. ; Ruth, Katherine S. ; Wood, Andrew R....
Genetics in Medicine. 21 (2019) 4 - p. 877-886 , 2019

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

5

Response to Prakash et al:

Tuke, Marcus A. ; Ruth, Katherine S. ; Wood, Andrew R....
Genetics in Medicine. 21 (2019) 8 - p. 1884-1885 , 2019

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

6

Incomplete penetrance, variable expressivity, or dosage ins..:

Bateman, Mark S. ; Collinson, Morag N. ; Bunyan, David J....
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 319-329 , 2017

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

7

Inherited 2q23.1 microdeletions involving the MBD5 locus:

Tadros, Shereen ; Wang, Rubin ; Waters, Jonathan J....
Molecular Genetics & Genomic Medicine. 5 (2017) 5 - p. 608-613 , 2017

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

8

Expanding the ocular phenotype of 14q terminal deletions: A..:

Salter, Claire G. ; Baralle, Diana ; Collinson, Morag N..
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1017-1022 , 2016

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

9

Inside the 8p23.1 duplication syndrome; eight microduplicat..:

Barber, John C. K. ; Rosenfeld, Jill A. ; Graham, John M....
American Journal of Medical Genetics Part A. 167 (2015) 9 - p. 2052-2064 , 2015

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

10

Two further patients with the 1q24 deletion syndrome expand..:

Ashraf, Tazeen ; Collinson, Morag N. ; Fairhurst, Joanna...
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 3153-3160 , 2015

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

11

An evidence-based approach to establish the functional and ..:

Kaminsky, Erin B ; Kaul, Vineith ; Paschall, Justin...
Genetics in Medicine. 13 (2011) 9 - p. 777-784 , 2011

Link: https://doi.org/10.1097/..

12

Further molecular and clinical delineation of the Wisconsin..:

Willemsen, Marjolein H. ; de Leeuw, Nicole ; Mercer, Catherine...
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 106-112 , 2010

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

13

Inverted duplication of 1q32.1 to 1q44 characterized by arr..:

Balasubramanian, Meena ; Barber, John C.K. ; Collinson, Morag N....
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 793-797 , 2009

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

14

15q overgrowth syndrome: A newly recognized phenotype assoc..:

Tatton‐Brown, Katrina ; Pilz, Daniela T. ; Örstavik, Karen Helene...
American Journal of Medical Genetics Part A. 149A (2009) 2 - p. 147-154 , 2009

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

15

Functional disomy resulting from duplications of distal Xq ..:

Lachlan, Katherine L. ; Collinson, Morag N. ; Sandford, Richard O. C....
Human Genetics. 115 (2004) 5 - p. 399-408 , 2004

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