Results 1 to 10 of about 2,395 (162)

A Critical Revisiting the Concept of "Dichotomy of Punishment" in the Islamic Penal System in Light of the Application of Hadd and Tazir [PDF]

Faṣlnāmah-i Pizhūhish-i Huqūq-i Kiyfarī, 2023
According to common jurisprudence punishments are based on a dichotomous system, they are either hadd or tazir. This dichotomy of punishment is not based on text even though there is no text about this.
حسین khodayar
doaj   +2 more sources

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report [PDF]

Journal of Medical Case Reports, 2022
Background Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new ...
Mohamed Islam Kediha, Meriem Tazir, Damien Sternberg, Bruno Eymard, Lamia Alipacha   +4 more
doaj   +2 more sources

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. [PDF]

J Peripher Nerv Syst, 2022
Abstract Background and aims Charcot‐Marie‐Tooth disease (CMT) is the most common inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity. While most cases were described in populations with Caucasian ancestry, genetic research on CMT in Africa is scant.
Yalcouyé A, Esoh K, Guida L, Wonkam A.
europepmc   +2 more sources

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries. [PDF]

Clin Genet
NEUROMYODredger‐3billion Megaproject was created to provide a genetic diagnosis for 245 children and adults with neurologic disorders in seven countries for free. With whole exome sequencing on a single patient, we could end the diagnostic odyssey in around 30% of cases.
Malfatti E, Caramizaru A, Lee H, Kim J, Shoaito H, Pennisi A, Souvannanorath S, Authier FJ, Dumitrescu A, Fahmy N, Escobar-Cedillo RE, Miranda-Duarte A, Luna-Angulo AB, Nouioua S, Benchaabi O, Tazir M, Hallal S, Martinez P, Castiglioni C, Dobrescu A, Tajsharghi H.   +20 more
europepmc   +2 more sources

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]

Mov Disord
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D'Arco F, Biglari S, Nikuei P, Gleeson JG, Tazir M, Ali Pacha L, Houlden H.   +11 more
europepmc   +2 more sources

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. [PDF]

Eur J Neurol
ABSTRACT Background and Aims In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26 patients with CMT4B1/CMT4B2, recruited from the previous study and among the Inherited Neuropathy ...
Bertini A, Reilly MM, Pisciotta C, Previtali SC, Parman Y, Battaloglu E, Laurà M, Blake J, Sacconi S, Attarian S, Stojkovic T, Bellatache M, Nouioua S, Tazir M, Cakar A, Gambardella A, Valentino P, Lewis RA, Horvath R, Zambon AA, Sabatelli M, Luigetti M, Tozza S, Manganelli F, Herrmann DN, Scherer SS, Kressin N, Ward K, Bolino A, Shy ME, Pareyson D, CMT4B Study Group, Inherited Neuropathy Consortium.   +32 more
europepmc   +2 more sources

Facilitators to Accessibility of HIV/AIDS-Related Health Services among Transgender Women Living with HIV in Yogyakarta, Indonesia. [PDF]

AIDS Res Treat, 2019
The study aimed to explore facilitators or enabling factors that enhance accessibility (defined as the opportunity to be able to use) to HIV/AIDS‐related health services among HIV positive transgender women, also known as Waria in Yogyakarta, Indonesia.
Fauk NK, Merry MS, Siri TA, Tazir FT, Sigilipoe MA, Tarigan KO, Mwanri L.   +6 more
europepmc   +2 more sources

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2. [PDF]

Brain Behav, 2020
TFG was a rare causative gene of CMT. In this study, we reported a novel TFG mutation in a Chinese pedigree with 8 CMT2 patients. Our report provided additional evidence that the heterozygous TFG mutations were associated with CMT2. b1: muscle atrophy of upper limbs in the proband (III‐14) b2: muscle atrophy of lower limbs in the proband (III‐14) b3 ...
Wu DW, Li Y, Yin X, Zhang B.
europepmc   +2 more sources

Dependency of Justice in Ta'zir Punishment on The Fundamentals of Crime Commitment [PDF]

International Multidisciplinary Journal of Pure Life
SUBJECT & OBJECTIVES: ‘Idālah (justice) in executing punishment against offenders must correspond with the circumstances of the crime and the offender at the time of commitment.
Tofiq Asadov, Mohammad-Hossein Sharifi
doaj   +2 more sources

مفهوم التعزير في الفقه السياسي دراسة مقارنة بمفهوم التقنين

İlahiyat Akademi, 2022
يعد مفهوم التعزير من المفاهيم الأصيلة في الفقه الإسلامي؛ فالعقوبات في الشريعة الإسلامية تنقسم إلى حدود وتعازير، أما العقوبات الحديَّة فهي التي حددها الله سبحانه وتعالى، وأما العقوبات التعزيرية فهي التي تركت الشريعة الإسلامية تقديرها إلى القاضي، وللقاضي ...
Muhammer Nur Hamden
doaj   +1 more source