E-LIB Suche - Ergebnisse für: Bhaskar, Sanjeev

1

Validation of copy number variation analysis for next-gener..:

Ellingford, Jamie M ; Campbell, Christopher ; Barton, Stephanie...
European Journal of Human Genetics. 25 (2017) 6 - p. 719-724 , 2017

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

2

ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M. ; Chandler, Kate E....
The American Journal of Human Genetics. 101 (2017) 6 - p. 1021-1033 , 2017

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

3

Whole Genome Sequencing Increases Molecular Diagnostic Yiel..:

Ellingford, Jamie M. ; Barton, Stephanie ; Bhaskar, Sanjeev...
Ophthalmology. 123 (2016) 5 - p. 1143-1150 , 2016

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

4

Non lethal Raine syndrome and differential diagnosis:

Elalaoui, Siham Chafai ; Al-Sheqaih, Nada ; Ratbi, Ilham...
European Journal of Medical Genetics. 59 (2016) 11 - p. 577-583 , 2016

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

5

Exploring the genetic basis of 3MC syndrome: Findings in 12..:

Urquhart, Jill ; Roberts, Rebecca ; de Silva, Deepthi...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1216-1224 , 2016

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

6

A reliable method for the detection of BRCA1 and BRCA2 muta..:

Ellison, Gillian ; Huang, Shuwen ; Carr, Hedley...
BMC Clinical Pathology. 15 (2015) 1 - p. , 2015

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

7

LRIG2 Mutations Cause Urofacial Syndrome:

Stuart, Helen M. ; Roberts, Neil A. ; Burgu, Berk...
The American Journal of Human Genetics. 92 (2013) 2 - p. 259-264 , 2013

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

8

Early Diagnosis of Werner's Syndrome Using Exome-Wide Seque..:

Semple, Robert K. ; Barroso, Inês ; O'Rahilly, Stephen...
Frontiers in Endocrinology. 2 (2011) - p. , 2011

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

9

Personalised virtual gene panels reduce interpretation work..:

Molina-Ramírez, Leslie Patricia ; Kyle, Claire ; Ellingford, Jamie M...
Journal of Medical Genetics. 59 (2021) 4 - p. 393-398 , 2021

Link: https://doi.org/10.1136/..

10

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics. 108 (2021) 11 - p. 2195-2204 , 2021

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

11

The diagnostic utility of clinical exome sequencing in 60 p..:

Molina‐Ramírez, Leslie P. ; Burkitt‐Wright, Emma MM. ; Saeed, Haroon...
Clinical Otolaryngology. 46 (2021) 6 - p. 1257-1262 , 2021

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

12

A homozygous missense variant in CHRM3 associated with fami..:

Beaman, Glenda M. ; Galatà, Gabriella ; Teik, Keng W....
Clinical Genetics. 96 (2019) 6 - p. 515-520 , 2019

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

13

A deep intronic SMARCB1 variant associated with schwannomat..:

Smith, Miriam J. ; Bowers, Naomi L. ; Banks, Catherine...
Clinical Genetics. 97 (2019) 2 - p. 376-377 , 2019

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

14

Erratum: Corrigendum: Mutations in SNORD118 cause the cereb..:

Jenkinson, Emma M ; Rodero, Mathieu P ; Kasher, Paul R...
Nature Genetics. 49 (2017) 2 - p. 317-317 , 2017

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

15

Homozygous mutation in PTRH2 gene causes progressive sensor..:

Sharkia, Rajech ; Shalev, Stavit A. ; Zalan, Abdelnaser...
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1051-1055 , 2017

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