E-LIB Suche - Ergebnisse für: Murray, Jennie E.

1

Biallelic variants inDNA2cause microcephalic primordial dwa..:

Tarnauskaitė, Žygimantė ; Bicknell, Louise S. ; Marsh, Joseph A....
Human Mutation. , 2019

2

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome wit..:

Logan, Clare V. ; Murray, Jennie E. ; Parry, David A....
The American Journal of Human Genetics. 103 (2018) 6 - p. 1038-1044 , 2018

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

3

Mutations in DONSON disrupt replication fork stability and ..:

Reynolds, John J ; Bicknell, Louise S ; Carroll, Paula...
Nature Genetics. 49 (2017) 4 - p. 537-549 , 2017

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

4

Corrigendum: Mutations in genes encoding condensins cause m..:

Martin, Carol-Anne ; Murray, Jennie E. ; Carroll, Paula...
Genes & Development. 31 (2017) 9 - p. 953-953 , 2017

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

5

Mutations in genes encoding condensin complex proteins caus..:

Martin, Carol-Anne ; Murray, Jennie E. ; Carroll, Paula...
Genes & Development. 30 (2016) 19 - p. 2158-2172 , 2016

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

6

Mutations in PLK4, encoding a master regulator of centriole..:

Martin, Carol-Anne ; Ahmad, Ilyas ; Klingseisen, Anna...
Nature Genetics. 46 (2014) 12 - p. 1283-1292 , 2014

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

7

A syndromic form of Pierre Robin sequence is caused by 5q23..:

Ansari, Morad ; Rainger, Jacqueline K. ; Murray, Jennie E....
European Journal of Medical Genetics. 57 (2014) 10 - p. 587-595 , 2014

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

8

Extreme Growth Failure is a Common Presentation of Ligase I..:

Murray, Jennie E. ; Bicknell, Louise S. ; Yigit, Gökhan...
Human Mutation. 35 (2013) 1 - p. 76-85 , 2013

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

9

A de novo SRCAP mutation associated with Floating-Harbor sy..:

Uzak, Asli Subasioglu ; Jackson, Andrew P ; Murray, Jennie E..
Current Opinion in Biotechnology. 24 (2013) - p. S100 , 2013

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

10

Exploring microcephaly and human brain evolution:

MURRAY, JENNIE E ; JACKSON, ANDREW P
Developmental Medicine & Child Neurology. 54 (2012) 7 - p. 580-581 , 2012

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

11

A novel nonsense CDK5RAP2 mutation in a Somali child with p..:

Pagnamenta, Alistair T. ; Murray, Jennie E. ; Yoon, Grace...
American Journal of Medical Genetics Part A. 158A (2012) 10 - p. 2577-2582 , 2012

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

12

Growth in individuals with Majewski osteodysplastic primord..:

Bober, Michael B. ; Niiler, Tim ; Duker, Angela L....
American Journal of Medical Genetics Part A. 158A (2012) 11 - p. 2719-2725 , 2012

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

13

Biallelic variants in DNA2 cause microcephalic primordial d..:

Tarnauskaitė, Žygimantė ; Bicknell, Louise S ; Marsh, Joseph A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773220/. , 2019

Link: http://www.ncbi.nlm.nih...

14

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome wit..:

Logan, Clare, V ; Murray, Jennie, E ; Parry, David, A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.10.024. , 2018

Link: https://hal.science/hal-..

15

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome wit..:

Logan, Clare, V ; Murray, Jennie, E ; Parry, David, A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.10.024. , 2018

Link: https://hal.science/hal-..