E-LIB Suche - Ergebnisse für: Abbs, Stephen

1

EMQN best practice guidelines for genetic testing in dystro..:

Fratter, Carl ; Dalgleish, Raymond ; Allen, Stephanie K....
European Journal of Human Genetics. 28 (2020) 9 - p. 1141-1159 , 2020

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

2

Inherited and de novo biallelic pathogenic variants in COL1..:

Nixon, Thomas ; Richards, Allan J. ; Lomas, Adrian...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

3

Whole genome sequencing reveals that genetic conditions are..:

NIHR BioResource—Rare Disease ; French, Courtney E. ; Delon, Isabelle...
Intensive Care Medicine. 45 (2019) 5 - p. 627-636 , 2019

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

4

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1884-1894 , 2019

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

5

Re-annotation of 191 developmental and epileptic encephalop..:

Steward, Charles A. ; Roovers, Jolien ; Suner, Marie-Marthe...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

6

Clinical utility gene card for: inherited optic neuropathie..:

Jurkute, Neringa ; Majander, Anna ; Bowman, Richard...
European Journal of Human Genetics. 27 (2018) 3 - p. 494-502 , 2018

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

7

Bone morphogenetic protein 4 (BMP4) loss-of-function varian..:

Nixon, Thomas R. W. ; Richards, Allan ; Towns, Laura K....
European Journal of Human Genetics. 27 (2018) 3 - p. 369-377 , 2018

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

8

Adult female with symptomatic AVPR2-related nephrogenic syn..:

Hague, Jennifer ; Casey, Ruth ; Bruty, Jonathan...
Endocrinology, Diabetes & Metabolism Case Reports. 2018 (2018) - p. , 2018

Link: https://doi.org/10.1530/..

9

Mosaicism for a pathogenic MFN2 mutation causes minimal cli..:

Schon, Katherine ; Spasic-Boskovic, Olivera ; Brugger, Kim...
neurogenetics. 18 (2017) 1 - p. 49-55 , 2017

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

10

Male child with somatic mosaic Osteopathia Striata with Cra..:

Hague, Jennifer ; Delon, Isabelle ; Brugger, Kim...
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1931-1935 , 2017

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

11

Discovery of a novel dominant mutation in the REN gene afte..:

Clissold, Rhian L. ; Clarke, Helen C. ; Spasic-Boskovic, Olivera...
BMC Nephrology. 18 (2017) 1 - p. , 2017

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

12

Renal anomalies and lymphedema distichiasis syndrome. A rar..:

Jones, Gabriela E. ; Richmond, Anna K. ; Navti, Osric...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2251-2256 , 2017

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

13

Molecularly proven mosaicism in phenotypically normal paren..:

Hague, Jennifer ; Delon, Isabelle ; Brugger, Kim...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1608-1612 , 2016

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

14

Profiling of Somatic Mutations in Phaeochromocytoma and Par..:

Luchetti, Andrea ; Walsh, Diana ; Rodger, Fay...
International Journal of Endocrinology. 2015 (2015) - p. 1-8 , 2015

Link: https://doi.org/10.1155/..

15

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome:..:

Taylor, Amy ; Delon, Isabelle ; Allinson, Kieren...
Journal of Neuropathology & Experimental Neurology. 74 (2015) 4 - p. 288-292 , 2015

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