E-LIB Suche - Ergebnisse für: McDonell, Laura M

1

Insulinoma presenting as hypoglycemia during lactose tolera..:

Munro, Vicki ; McDonell, Laura M. ; Keough, Valerie.
Journal of Medical Case Reports. 14 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

2

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia,..:

Gennarino, Vincenzo A. ; Palmer, Elizabeth E. ; McDonell, Laura M....
Cell. 172 (2018) 5 - p. 924-936.e11 , 2018

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

3

Mosaic KRAS mutation in a patient with encephalocraniocutan..:

McDonell, Laura M. ; Leung, Gordon Ka‐Chun ; Daoud, Hussein...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2523-2527 , 2018

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

4

Receptor tyrosine kinase mutations in developmental syndrom..:

McDonell, Laura M. ; Kernohan, Kristin D. ; Boycott, Kym M..
Human Molecular Genetics. 24 (2015) R1 - p. R60-R66 , 2015

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

5

The utility of exome sequencing for genetic diagnosis in a ..:

McDonell, Laura M ; Warman Chardon, Jodi ; Schwartzentruber, Jeremy...
BMC Neurology. 14 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

6

Mutations in STAMBP, encoding a deubiquitinating enzyme, ca..:

FORGE Canada Consortium ; McDonell, Laura M ; Mirzaa, Ghayda M...
Nature Genetics. 45 (2013) 5 - p. 556-562 , 2013

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

7

Insulinoma presenting as hypoglycemia during lactose tolera..:

Munro, Vicki ; McDonell, Laura M ; Keough, Valerie.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325648/. , 2020

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

8

A mild PUM1 mutation is associated with adult-onset ataxia,..:

Gennarino, Vincenzo A ; Palmer, Elizabeth E ; McDonell, Laura M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058/. , 2018

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

9

Mosaic Activating Mutations in FGFR1 Cause Encephalocranioc..:

Bennett, James T ; Tan, Tiong Yang ; Alcantara, Diana...
Bennett , J T , Tan , T Y , Alcantara , D , Tétrault , M , Timms , A E , Jensen , D , Collins , S , Nowaczyk , M J M , Lindhurst , M J , Christensen , K M , Braddock , S R , Brandling-Bennett , H , Hennekam , R C M , Chung , B , Lehman , A , Su , J , Ng , S , Amor , D J , Majewski , J , Biesecker , L G , Boycott , K M , Dobyns , W B , O'Driscoll , M , Moog , U & McDonell , L M 2016 , ' Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis ' , American Journal of Human Genetics , vol. 98 , no. 3 , pp. 579-587 . https://doi.org/10.1016/j.ajhg.2016.02.006. , 2016

Link: https://research.monash...

10

The utility of exome sequencing for genetic diagnosis in a ..:

McDonell, Laura M ; Warman Chardon, Jodi ; Schwartzentruber, Jeremy...
http://www.biomedcentral.com/1471-2377/14/22. , 2014

Link: http://www.biomedcentral..

11

Mutations in STAMBP, encoding a deubiquitinating enzyme, ca..:

McDonell, Laura M ; Mirzaa, Ghayda M ; Alcantara, Diana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000253. , 2013

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

12

Insulinoma presenting as hypoglycemia during lactose tolera..:

Vicki Munro ; Laura M. McDonell ; Valerie Keough.
http://link.springer.com/article/10.1186/s13256-020-02419-4. , 2020

Link: https://doi.org/10.1186/..

13

17p13.3 microduplications are associated with split-hand/fo..:

Armour, Christine M ; Bulman, Dennis E ; Jarinova, Olga...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198152. , 2011

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

14

Separate and combined effects of advanced age and obesity o..:

Smith, Laura A. ; Craven, Dalton M. ; Rainey, Magdalena A....
Frontiers in Oncology. 12 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

15

Separate and combined effects of advanced age and obesity o..:

Smith, Laura A ; Craven, Dalton M ; Rainey, Magdalena A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846347/. , 2023

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