Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sarah, Berrada"'
Autor:
Sarah, Berrada1 sarah.berrada.gen@gmail.com, Amal, Tazzite1, Maarouf, Fatima1, Bouchaib, Gazzaz1, Hind, Dehbi1
Publikováno v:
European Journal of Medical Case Reports. 2024, Vol. 8 Issue 9, p192-195. 4p.
Publikováno v:
SAGE Open Medical Case Reports; 9/14/2024, p1-4, 4p
Publikováno v:
Clinical Pathology, Vol 15 (2022)
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated w
Externí odkaz:
https://doaj.org/article/a629e2377237432385734e476266821d
Publikováno v:
Clinical dysmorphology. 32(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd24169532c23541167b5c13824dfdd
https://pubmed.ncbi.nlm.nih.gov/36503923
https://pubmed.ncbi.nlm.nih.gov/36503923
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Ring chromosome 9 is a rare chromosomal abnormality. The severity and nature of symptoms vary according to the structural abnormalities. Here, we report a case of a patient with neurological and malformative syndrome caused by a ring of chromosome 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f164a0a113addda5aa2a1ce65bd7fef3
https://doi.org/10.51766/ijre.v5i1.157
https://doi.org/10.51766/ijre.v5i1.157
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Huntington disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide repeat expansions in the Huntington HTT gene inherited in an autosomal dominant manner. It is characterized by a motor, cognitive and psychiatric symptoms that prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4631c5078e287798208de2abc94b47a
https://doi.org/10.51766/ijre.v5i1.154
https://doi.org/10.51766/ijre.v5i1.154
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Tuberous Sclerosis Complex (TSC) is a rare multisystemic neurocutanous autosomal dominant syndrome. The cause of this disorder is a germinal mutation in TSC1 or TSC2 genes. Here, we report a case of a patient presenting tuberous sclerosis complex wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::486ca6c3a988f272ca2ff787f0aa5594
https://doi.org/10.51766/ijre.v5i1.156
https://doi.org/10.51766/ijre.v5i1.156
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Fragile X syndrome (FXS) is a multisystem disorder characterized by a large clinical spectrum including neuropsychological and behavioral disturbances such as intellectual deficiency (ID), global developmental delay, seizures and autism spectrum diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2abb77b7b0c8f390ad2a1073e98e96dc
https://doi.org/10.51766/ijre.v5i1.158
https://doi.org/10.51766/ijre.v5i1.158
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Dystrophinopathies are the most common forms of muscular dystrophy in childhood, characterize by a progressive muscle weakness. Mutations in the DMD gene result in Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD), inherited in X-l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8b5f4249502d158d8c5ddc7e03efc4e
https://doi.org/10.51766/ijre.v5i1.153
https://doi.org/10.51766/ijre.v5i1.153
Publikováno v:
Morphologie. 105:S13-S14
Les syndromes de type Angelman et Rett partagent certaines caracteristiques cliniques, y compris la deficience intellectuelle avec ou sans regression, l’epilepsie, l’encephalopathie infantile, la microcephalie postnatale, des caracteristiques dan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f532946bb7fb21660019ff22f6b2e4b
https://doi.org/10.1016/j.morpho.2021.05.026
https://doi.org/10.1016/j.morpho.2021.05.026