E-LIB Suche - Ergebnisse für: Ejaz, Resham

1

P311: Use of a DNA methylation signature for the diagnosis ..:

Man, Alice ; Di Scipio, Matteo ; Hough, Rebecca...
Genetics in Medicine Open. 2 (2024) - p. 101206 , 2024

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

2

The Genetics of Tuberous Sclerosis Complex and Related mTOR..:

Man, Alice ; Di Scipio, Matteo ; Grewal, Shan...
Genes. 15 (2024) 3 - p. 332 , 2024

Link: https://doi.org/10.3390/..

3

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023

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

4

Management of major bleeds in patients with immune thromboc..:

Mithoowani, Siraj ; Cervi, Andrea ; Shah, Nishwa...
Journal of Thrombosis and Haemostasis. 18 (2020) 7 - p. 1783-1790 , 2020

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

5

New insights into DNA methylation signatures: SMARCA2 varia..:

Chater-Diehl, Eric ; Ejaz, Resham ; Cytrynbaum, Cheryl...
BMC Medical Genomics. 12 (2019) 1 - p. , 2019

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

6

Stable transmission of an unbalanced chromosome 21 derived ..:

Sabatini, Peter J. B. ; Ejaz, Resham ; Stavropoulos, Dimitri J...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

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

7

Impact of Mobility Device Use on Quality of Life in Childre..:

Ejaz, Resham ; Chen, Shiyi ; Isaacs, Charles J....
Journal of Child Neurology. 33 (2018) 6 - p. 397-404 , 2018

Link: https://doi.org/10.1177/..

8

Riboflavin transporter deficiency mimicking mitochondrial m..:

Nimmo, Graeme A. M. ; Ejaz, Resham ; Cordeiro, Dawn..
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 399-403 , 2017

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

9

Primary mediastinal paraganglioma associated with a familia..:

Samuel, Nardin ; Ejaz, Resham ; Silver, Josh...
Journal of Surgical Oncology. 117 (2017) 2 - p. 160-162 , 2017

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

10

De novo pathogenic variant in TUBB2A presenting with arthro..:

Ejaz, Resham ; Lionel, Anath C. ; Blaser, Susan...
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2725-2730 , 2017

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

11

Child Neurology: Diencephalic syndrome–like presentation of..:

Conway, Melanie ; Ejaz, Resham ; Kouzmitcheva, Elizabeth...
Neurology. 87 (2016) 21 - p. , 2016

Link: https://doi.org/10.1212/..

12

Lateral meningocele (Lehman) syndrome: A child with a novel..:

Ejaz, Resham ; Qin, Wen ; Huang, Lijia...
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1070-1075 , 2016

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

13

The evolving features of Nicolaides–Baraitser syndrome – a ..:

Ejaz, Resham ; Babul‐Hirji, Riyana ; Chitayat, David
Clinical Case Reports. 4 (2016) 4 - p. 351-355 , 2016

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

14

Whole-genome sequencing expands diagnostic utility and impr..:

Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah...
npj Genomic Medicine. 1 (2016) 1 - p. , 2016

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

15

Pathogenic DNM1 Gene Variant Presenting With Unusually Nons..:

Choi, Elaine ; Dale, Breanne ; RamachandranNair, Rajesh.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356699/. , 2021

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