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by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly... 
osteogenesis imperfecta | craniosynostosis | Toriello–Carey | Toriello-Carey | RECESSIVE OSTEOGENESIS IMPERFECTA | CLASSIFICATION | DISORDERS | CLINICAL GENOMICS | HETEROGENEITY | GENETICS | NOSOLOGY | GENETICS & HEREDITY | MUTATIONS | WNT
Journal Article
Saudi Medical Journal, ISSN 0379-5284, 11/2015, Volume 36, Issue 11, pp. 1354 - 1357
Journal Article
Saudi Medical Journal, ISSN 0379-5284, 09/2015, Volume 36, Issue 9, pp. 1110 - 1114
The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria... 
MEDICINE, GENERAL & INTERNAL | ACIDEMIA | ACIDURIA | Methylmalonyl-CoA Mutase - genetics | Saudi Arabia | Homozygote | Animals | Humans | Mice | Mutation | Amino acids | Genetic aspects | Codon | Genes | Case Report
Journal Article
Retinal cases & brief reports, ISSN 1935-1089, 09/2018, Volume 12, Issue 4, pp. 349 - 358
To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings. Observational case series of... 
Journal Article
Neurosciences (Riyadh, Saudi Arabia), ISSN 1319-6138, 10/2018, Volume 23, Issue 4, pp. 314 - 319
Objectives: To assess the knowledge and attitudes of physicians in different specialties who are involved in the care of children with FS. Methods: We assessed... 
RISK | NEURODIAGNOSTIC EVALUATION | CHILD | CLINICAL NEUROLOGY
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2015, Volume 5, pp. 306 - 306
The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and... 
Journal Article
Physiological genomics, 11/2018, Volume 50, Issue 11, p. 929
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps... 
Journal Article
ISSN 2160-8288, 2015
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated... 
Medicine | Neurosciences | Medical sciences
Journal Article
Sudanese journal of paediatrics, ISSN 0256-4408, 2016, Volume 16, Issue 1, pp. 63 - 66
This is a case report of acute organophosphate poisoning in a child treated with topical application of Diazinon-60 (WHO Class II toxicity) for head lice... 
Pediculosis | Scanning electron microscopy | Head lice nits | Head lice | Organophosphate poisoning | Children | Diazinon | Case Report
Journal Article
Sudanese journal of paediatrics, ISSN 0256-4408, 2014, Volume 14, Issue 2, pp. 61 - 70
The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a... 
Neurocutaneous syndrome | Hypomelanosis of Ito | Brain iron accumulation | Case Report
Journal Article
Sudanese journal of paediatrics, ISSN 0256-4408, 2016, Volume 16, Issue 2, pp. 67 - 76
Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in children. It is characterized by raised intracranial pressure (ICP) in the... 
Pseudo tumor cerebri | Secondary intracranial hypertension | Education and Practice | Child | Idiopathic intracranial hypertension | Primary intracranial hypertension
Journal Article
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