E-LIB Suche - Ergebnisse für: Selim, Laila A.

1

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain. , 2024

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

2

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics. 105 (2024) 5 - p. 510-522 , 2024

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

3

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024

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

4

Clinical, biochemical, and molecular characterization of mu..:

Almenabawy, Nihal ; Ramadan, Manal ; Kamel, Mona...
American Journal of Medical Genetics Part A. , 2023

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

5

Organic acidurias in Egyptian children: The urge for high‐r..:

Mehaney, Dina A. ; Seliem, Zeinab S. ; Selim, Laila A....
Pediatrics International. 65 (2023) 1 - p. , 2023

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

6

Creatine Deficiency Syndromes: Comparison of Screening Meth..:

Mustafa, Naira M. ; Elabd, Nevine E. ; Selim, Laila A...
Clinica Chimica Acta. 536 (2022) - p. 70-76 , 2022

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

7

Genetic variants of Pompe disease among a sample of Egyptia..:

Darwish, Rania K. ; Rabie, Walaa A. ; El Abd, Dina M....
Gene Reports. 27 (2022) - p. 101631 , 2022

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

8

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S84 , 2022

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

9

Farber disease clinical impact: Patient reported outcomes a..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S83-S84 , 2022

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

10

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, Marieke M ; Maroofian, Reza ; Fukata, Yuko...
Brain. 145 (2022) 7 - p. 2301-2312 , 2022

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

11

Clinical and genetic spectrum of mitochondrial DNA depletio..:

AlMenabawy, Nihal ; Hassaan, Hebatallah M ; Ramadan, Manal...
Mitochondrion. 65 (2022) - p. 139-144 , 2022

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

12

A novel POU1F1 pathogenic variant: Two familial case report..:

Musa, Noha ; Elmonem, Mohamed A. ; Beetz, Christian...
Clinical Genetics. 100 (2021) 5 - p. 641-642 , 2021

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

13

Loss of MTX2 causes mandibuloacral dysplasia and links mito..:

Elouej, Sahar ; Harhouri, Karim ; Le Mao, Morgane...
Nature Communications. 11 (2020) 1 - p. , 2020

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

14

ASAH1‐related disorders: Description of 15 novel pediatric ..:

Mahmoud, Iman G. ; Elmonem, Mohamed A. ; Zaki, Maha S....
Clinical Genetics. 98 (2020) 6 - p. 598-605 , 2020

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

15

A relatively common homozygous TRAPPC4 splicing variant is ..:

Ghosh, Shereen G. ; Scala, Marcello ; Beetz, Christian...
European Journal of Human Genetics. 29 (2020) 2 - p. 271-279 , 2020

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