Search details
1.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Article
in English
| MEDLINE | ID: mdl-35759269
2.
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Mol Biol Rep
; 48(10): 6999-7006, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34553317
3.
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 233(5): 226-230, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-33831955
4.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Article
in English
| MEDLINE | ID: mdl-31501903
5.
Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 2021 May 10.
Article
in English
| MEDLINE | ID: mdl-33971673
6.
c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease.
Arch Pediatr
; 31(4): 277-278, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38485567
7.
Phenotype and molecular characterization of Wilson's disease in Morocco.
Clin Res Hepatol Gastroenterol
; 48(5): 102335, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38588792
8.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Diagnostics (Basel)
; 13(17)2023 08 30.
Article
in English
| MEDLINE | ID: mdl-37685353
9.
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
Clin Chim Acta
; 524: 51-58, 2022 Jan 01.
Article
in English
| MEDLINE | ID: mdl-34852264
10.
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
BMC Med Genomics
; 14(1): 113, 2021 04 21.
Article
in English
| MEDLINE | ID: mdl-33882917
11.
Medicines Acceptability in Hospitalized Children: An Ongoing Need for Age-Appropriate Formulations.
Pharmaceutics
; 12(8)2020 Aug 13.
Article
in English
| MEDLINE | ID: mdl-32823568
12.
[Traditional camphor misuse: a forgotten danger to children (about 2 cases)]. / Mésusage traditionnel du camphre: un danger oublié pour les enfants (à propos de 2 cas).
Pan Afr Med J
; 32: 89, 2019.
Article
in French
| MEDLINE | ID: mdl-31223380
13.
Ecthyma gangrenosum as the first presentation of acute lymphocytic leukaemia in an infant.
BMJ Case Rep
; 16(11)2023 11 24.
Article
in English
| MEDLINE | ID: mdl-38000809
14.
[Overview of X-linked adrenoleukodystrophy in Morocco: results of the implementation of the program of clinical and biological diagnosis]. / Développement d'un programme multidisciplinaire de diagnostic de l'adrénoleucodystrophie liée à l'X au Maroc: résultats de la mise en Åuvre du programme de diagnostic clinique et biologique.
Pan Afr Med J
; 28: 185, 2017.
Article
in French
| MEDLINE | ID: mdl-29599883
15.
Pathologic Confirmation of Lafora Disease.
Pediatr Neurol
; 108: 128, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32279901
16.
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.
J Neurol Sci
; 410: 116639, 2020 03 15.
Article
in English
| MEDLINE | ID: mdl-31884352
17.
Clinical and genetic data of Huntington disease in Moroccan patients.
Afr Health Sci
; 15(4): 1232-8, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26958025
18.
Teaching NeuroImages: A child with macrocephaly and psychomotor development delay.
Neurology
; 92(20): e2397-e2398, 2019 05 14.
Article
in English
| MEDLINE | ID: mdl-31085733
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