Results 1 to 10 of about 591 (155)

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

open access: yesFaṣlnāmah-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]

open access: yesJournal 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   +4 more
doaj   +2 more sources

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

open access: yesJournal of the Peripheral Nervous System, Volume 27, Issue 2, Page 100-112, June 2022., 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.
Abdoulaye Yalcouyé   +3 more
wiley   +2 more sources

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

open access: yesMovement Disorders, Volume 40, Issue 11, Page 2531-2537, November 2025.
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.
Reza Maroofian   +11 more
wiley   +2 more sources

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

open access: yesClinical Genetics, Volume 108, Issue 3, Page 318-322, September 2025.
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.
Edoardo Malfatti   +20 more
wiley   +2 more sources

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

open access: yesEuropean Journal of Neurology, Volume 32, Issue 2, February 2025.
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 ...
Alessandro Bertini   +45 more
wiley   +2 more sources

الدَّرء بالشُّبهة بين القاعدة الفقهيَّة والتطبيق القضائيِّ في الحدود والتَّعازير Deflection by Doubt Between the Jurisprudential Principle and Judicial Application in Hudud and Tazir Punishments [PDF]

open access: yesمجلة كلية الدراسات الإسلامية والعربية للبنات بدمنهور
يتناول هذا البحث قاعدة ((درء الحدود بالشُّبهات)) من حيث تأصيلها الفقهي وتطبيقاتها القضائية، باعتبارها من القواعد الكلية التي تُجسِّد عدل الشريعة الإسلامية، وحرصها على صيانة النفوس من العقوبات حال قيام الشك أو الاحتمال.
خالد بن عبدالله الخشيبان
doaj   +2 more sources

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

open access: yesAIDS Research and Treatment, Volume 2019, Issue 1, 2019., 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.
Nelsensius Klau Fauk   +7 more
wiley   +2 more sources

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

open access: yesBrain and Behavior, Volume 10, Issue 9, September 2020., 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 ...
Ding‐Wen Wu   +3 more
wiley   +2 more sources

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

open access: yesInternational 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

Home - About - Disclaimer - Privacy