E-LIB Suche - Ergebnisse für: Lakhani, Shenela

1

Human mutations in SLITRK3 implicated in GABAergic synapse ..:

Efthymiou, Stephanie ; Han, Wenyan ; Ilyas, Muhammad...
Frontiers in Molecular Neuroscience. 17 (2024) - p. , 2024

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

2

A multi-stem cell basis for craniosynostosis and calvarial ..:

Bok, Seoyeon ; Yallowitz, Alisha R. ; Sun, Jun...
Nature. 621 (2023) 7980 - p. 804-812 , 2023

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

3

Dystonia phenomenology and treatment response in migraine:

Zolin, Aryeh ; Broner, Susan W. ; Yoo, Andrea...
Headache: The Journal of Head and Face Pain. 63 (2023) 2 - p. 255-263 , 2023

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

4

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

5

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023

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

6

Adult‐onset Niemann–Pick disease type C masquerading as spi..:

Vo, Mary L. ; Levy, Tess ; Lakhani, Shenela..
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

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

7

CHEDDAsyndrome is an underrecognized neurodevelopmental dis..:

Palmer, Elizabeth E. ; Whitton, Chloe ; Hashem, Mais O....
Clinical Genetics. 100 (2021) 4 - p. 468-477 , 2021

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

8

Defining the clinical, molecular and imaging spectrum of ad..:

Ebrahimi-Fakhari, Darius ; Teinert, Julian ; Behne, Robert...
Brain. , 2020

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

9

A pathogenic CtBP1 missense mutation causes altered cofacto..:

Beck, David B. ; Subramanian, T. ; Vijayalingam, S....
neurogenetics. 20 (2019) 3 - p. 129-143 , 2019

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

10

Point of Care Exome Sequencing Reveals Allelic and Phenotyp..:

Fakhro, Khalid A ; Robay, Amal ; Rodrigues-Flores, Juan L...
Human Molecular Genetics. , 2019

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

11

Identification of a novel CNTNAP1 mutation causing arthrogr..:

Lakhani, Shenela ; Doan, Ryan ; Almureikhi, Mariam...
European Journal of Medical Genetics. 60 (2017) 5 - p. 245-249 , 2017

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

12

High diagnostic yield of clinical exome sequencing in Middl..:

Yavarna, Tarunashree ; Al-Dewik, Nader ; Al-Mureikhi, Mariam...
Human Genetics. 134 (2015) 9 - p. 967-980 , 2015

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

13

Cono‐spondylar dysplasia: Clinical, radiographic, and molec..:

Ben‐Omran, Tawfeg ; Lakhani, Shenela ; Almureikhi, Mariam...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2147-2152 , 2014

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

14

It's a Small World: Fusion of Cultures in Genetic Counselin:

Lakhani, Shenela B.
Journal of Genetic Counseling. 21 (2012) 2 - p. 207-208 , 2012

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

15

The clinical and molecular spectrum of the KDM6B-related ne..:

Genomics England Research Consortium ; Rots, Dmitrijs ; Jakub, Taryn E...
6. , 2023

Link: https://trepo.tuni.fi/ha..