Suchergebnisse - "Shaikh, Samiha S"

PubPharm (13)

1

Midfacial Toddler Excoriation syndrome (MiTES) : case series, diagnostic criteria and evidence for a pathogenic mechanism

enthalten in: The British journal of dermatology | 2024

von Sarveswaran, N. | Pamela, Y. | Reddy, A. | +20

2

Evidence of a genetic background predisposing to complex regional pain syndrome type 1

enthalten in: Journal of medical genetics | 2024

von Shaikh, S. | Goebel, A. | Lee, M. | +14

3

Phenotypic manifestation of α-synuclein strains derived from Parkinson's disease and multiple system atrophy in human dopaminergic neurons

enthalten in: Nature communications | 2021

von Tanudjojo, B. | Shaikh, S. | Fenyi, A. | +9

4

Before progressing from "exomes" to "genomes"… don't forget splicing variants

enthalten in: European journal of human genetics : EJHG | 2018

von Shaikh, S. | Nahorski, M. | Rai, H. | +1

5

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

enthalten in: Scientific reports | 2018

von Nahorski, M. | Borner, G. | Shaikh, S. | +4

6

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site

enthalten in: Molecular pain | 2018

von Shaikh, S. | Nahorski, M. | Woods, C.

7

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

enthalten in: Human mutation | 2017

von Shaikh, S. | Chen, Y. | Halsall, S. | +5

CommentIn: Hum Mutat. 2017 Jan;38(1):5. - PMID 27943540

8

Corrigendum : Transcriptional regulator PRDM12 is essential for human pain perception

enthalten in: Nature genetics | 2015

von Chen, Y. | Auer-Grumbach, M. | Matsukawa, S. | +56

ErratumFor: Nat Genet. 2015 Jul;47(7):803-8. - PMID 26005867

9

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

enthalten in: Brain : a journal of neurology | 2015

von Nahorski, M. | Al-Gazali, L. | Hertecant, J. | +10

10

Transcriptional regulator PRDM12 is essential for human pain perception

enthalten in: Nature genetics | 2015

von Chen, Y. | Auer-Grumbach, M. | Matsukawa, S. | +56

ErratumIn: Nat Genet. 2015 Aug;47(8):962. - PMID 26220135