A Novel Mutation in the GJB2 (Connexin 26) Gene in Egyptian Children with Non-syndromic Sensorineural Hearing Loss Journal title: Macedonian Journal of Medical Sciences (MJMS) Authors: Nagwa Meguid| National Research Center - Research on Children with Special Needs Department, Giza, E... Subject(s): Epidemiology, Physiology
Clinical Spectrum of Hereditary Spastic Paraplegia in Children A study of 74 cases Journal title: Sultan Qaboos University Medical Journal Authors: Roshan Koul| Departments of Child Health, Sultan Qaboos University Hospital, Fathiya M. Al-Murshedi|... Subject(s): Medicine, Biochemistry, Biomedicine
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. Journal title: Electronic Physician Authors: Mohammadbagher Rahmati, Maryam Yazdanparast, Keramatallah Jahanshahi, Mohadese Zakeri Subject(s):
Harlequin ichthyosis: A rare case Journal title: Turkish Journal of Obstetrics and Gynecology Authors: Belide Shruthi, B.R. Nilgar, Anita Dalal, Nehaben Limbani Subject(s):
Nbia-neurodegeneration with Brain Iron Accumulation: A Rare Case Report with Review of Literature Journal title: International Neuropsychiatric Disease Journal Authors: Gauri Chauhan, A. K. Bhardwaj, Inderpreet Santok, Aarti Sareen Subject(s):
A Rare Association of Autosomal Recessive Polycystic Kidney (ARPKD) Disease with AV Canal Defect Journal title: IP International Journal of Medical Paediatrics and Oncology Authors: Devendra Nema, Rahul Sinha, K. Venkatnarayan, Shamsher Dalal Subject(s):
Harlequin Ichthyosis: Case Report of a rare disorder and Stigma attached to it Journal title: Journal of Medical Science And clinical Research Authors: Dr Manju Lata Sharma Subject(s):
Simple congenital anonychia in an Iranian family Journal title: Nasza Dermatologia Online Authors: Kaveh Gharaeinejad Subject(s):
Identification of heterozygous cases of Bovine leukocyte adhesion deficiency (BLAD) in Indian Holstein crossbred bulls Journal title: Journal of Applied Biology & Biotechnology Authors: Subject(s):
Harlequin Ichthyosis: A Rare Case Report Journal title: International Journal of Clinical Dermatology & Research (IJCDR) Authors: Asmae LAHLOU Subject(s):
Acrodermatitis Enteropathica: Case Report and Review of the Literature Journal title: International Journal of Pediatric Health Care & Advancements (IJPA) Authors: Hakima Elmahi Subject(s):
A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report Journal title: Journal of Advances in Medicine and Medical Research Authors: Mohammed J. Ashour, Shadi F. Al-Ashi, Fadel A. Sharif Subject(s):
A Child with Roberts Syndrome: A Case Report Journal title: Nepal Journal of Neuroscience Authors: Rajan K Sharma, MS Subject(s):
Clinical Diagnosis of Farber's Disease- A Rare Case Report Journal title: International Journal of Health Sciences and Research Authors: Ali Nasreen Subject(s):
Congenital Familial Clubbing: A Case Report Journal title: Scholars Journal of Medical Case Reports Authors: Shubhankar Mishra, Bhagabata Swain Subject(s):
