E-LIB Suche - Ergebnisse für: De Simone, Lenika

1

Muscle channelopathies: A review:

McGowan, Bridget R. ; Schwaede, Abigail N. ; De Simone, Lenika.
Annals of the Child Neurology Society. 1 (2023) 4 - p. 273-288 , 2023

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

2

Axonal polyneuropathy and ataxia in children: consider Perr..:

Munson, Hannah E. ; De Simone, Lenika ; Schwaede, Abigail...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

3

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023

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

4

Diagnosis of autism in a rare case of tyrosine hydroxylase ..:

Reyes, Zoe Maria Dominique ; Lynch, Emma ; Henry, Julia..
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

5

Expansion of the phenotypic spectrum associated with pathog..:

Drackley, Andy ; De Simone, Lenika ; Kuntz, Nancy...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 53-58 , 2023

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

6

Diagnosis of autism in a rare case of tyrosine hydroxylase ..:

Zoe Maria Dominique Reyes ; Emma Lynch ; Julia Henry..
https://doi.org/10.1186/s12920-023-01510-1. , 2023

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

7

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
github:barakatlab/AMFR_paper. , 2023

Link: http://hdl.handle.net/10..

8

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://research.manchester.ac.uk/en/publications/c7bfa7d2-f2c4-49c4-8cd5-41c7ebbb2728. , 2023

Link: https://research.manches..

9

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a. , 2023

Link: https://pure.eur.nl/en/p..

10

Axonal polyneuropathy and ataxia in children: consider Perr..:

Hannah E. Munson ; Lenika De Simone ; Abigail Schwaede...
https://doi.org/10.1186/s12920-023-01599-4. , 2023

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

11

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a. , 2023

Link: https://pure.eur.nl/en/p..

12

Genetic counselors' perspectives on population‐based screen..:

De Simone, Lenika M. ; Arjunan, Aishwarya ; Vogel Postula, Kristen J...
Journal of Genetic Counseling. 30 (2020) 1 - p. 158-169 , 2020

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

13

De Novo Variants in CNOT1, a Central Component of the CCR4-..:

Vissers, Lisenka E L M ; Kalvakuri, Sreehari ; de Boer, Elke...
boreal:260411. , 2020

Link: http://hdl.handle.net/20..

14

De Novo Variants in CNOT1, a Central Component of the CCR4-..:

Vissers, Lisenka E L M ; Kalvakuri, Sreehari ; de Boer, Elke...
boreal:260411. , 2020

Link: http://hdl.handle.net/20..

15

Turner syndrome due to Xp22.33 deletion with preserved gona..:

D'Ambrosio, Fabiola ; Chan, Jacqueline T ; Aslam, Hunain...
Oxford Medical Case Reports. 2019 (2019) 5 - p. , 2019

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