E-LIB Suche - Ergebnisse für: Charfeddine, Cherine

1

Uncovering the clinical relevance of unclassified variants ..:

Boujemaa, Maroua ; Nouira, Fatma ; Jandoubi, Nouha...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

2

Bathing Suit Ichthyosis:

Zaouak, Anissa ; Charfeddine, Cherine
Indian Pediatrics. 61 (2024) 4 - p. 397-397 , 2024

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

3

Expanding the clinical phenotype associated with NIPAL4 mut..:

Charfeddine, Cherine ; Laroussi, Nadia ; Mkaouar, Rahma...
PLOS ONE. 16 (2021) 10 - p. e0258777 , 2021

Link: https://doi.org/10.1371/..

4

Alpha-mannosidosis in Tunisian consanguineous families: Pot..:

Mkaouar, Rahma ; Riahi, Zied ; Charfeddine, Cherine...
PLOS ONE. 16 (2021) 10 - p. e0258202 , 2021

Link: https://doi.org/10.1371/..

5

Spectrum of Genetic Diseases in Tunisia: Current Situation ..:

Mezzi, Nessrine ; Messaoud, Olfa ; Mkaouar, Rahma...
Genes. 12 (2021) 11 - p. 1820 , 2021

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

6

Identification of a CDH12 potential candidate genetic varia..:

Charfeddine, Cherine ; Dallali, Hamza ; Abdessalem, Ghaith...
Journal of Human Genetics. 65 (2020) 4 - p. 397-410 , 2020

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

7

The morbid cutaneous anatomy of the human genome revealed b..:

Romdhane, Lilia ; Bouhamed, Heni ; Ghedira, Kais...
Genomics. 112 (2020) 6 - p. 4232-4241 , 2020

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

8

The first Mal de Meleda case in Libya: identification of a ..:

Bchetnia, Mbarka ; Bozgia, Mariam ; Laroussi, Nadia...
International Journal of Dermatology. 54 (2014) 12 - p. 1426-1428 , 2014

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

9

Novel and recurrent mutations in the TAT gene in Tunisian f..:

Bouyacoub, Yosra ; Zribi, Hela ; Azzouz, Hatem...
Gene. 529 (2013) 1 - p. 45-49 , 2013

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

10

Particular Mal de Meleda Phenotypes in Tunisia and Mutation..:

Bchetnia, Mbarka ; Laroussi, Nadia ; Youssef, Monia...
BioMed Research International. 2013 (2013) - p. 1-7 , 2013

Link: https://doi.org/10.1155/..

11

Clinical and genetic investigation of pediatric cases of Wo..:

Nouira, Sonia ; Ouarda, Fatma ; Charfeddine, Cherine...
Heart & Lung. 39 (2010) 5 - p. 432-436 , 2010

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

12

Coexistence of mal de Meleda and congenital cataract in a c..:

Bchetnia, Mbarka ; Merdassi, Ahlem ; Charfeddine, Cherine...
Journal of Medical Case Reports. 4 (2010) 1 - p. , 2010

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

13

Clinical, histological and genetic investigation of Buschke..:

Bchetnia, Mbarka ; Charfeddine, Cherine ; Kassar, Selma...
Journal of Dermatological Science. 54 (2009) 1 - p. 54-56 , 2009

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

14

New mutations of Darier disease in Tunisian patients:

Bchetnia, Mbarka ; Benmously, Rym ; Ben Brick, Ahlem Sabrine...
Archives of Dermatological Research. 301 (2009) 8 - p. 615-619 , 2009

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

15

Immunohistological study of involucrin expression in Darier..:

Kassar, Selma ; Charfeddine, Cherine ; Zribi, Hela...
Journal of Cutaneous Pathology. 35 (2008) 7 - p. 635-640 , 2008

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