X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (17) 17
genetics & heredity (10) 10
humans (10) 10
male (8) 8
female (7) 7
genetic aspects (6) 6
case report (5) 5
child (5) 5
epilepsy (4) 4
medicine (4) 4
medicine, general & internal (4) 4
mutation (4) 4
phenotype (4) 4
children (3) 3
genetics (3) 3
infant (3) 3
pediatrics (3) 3
risk factors (3) 3
adolescent (2) 2
amino acids (2) 2
autozygome (2) 2
biomedicine (2) 2
cg10721 (2) 2
child, preschool (2) 2
clinical genomics (2) 2
clinical neurology (2) 2
encephalopathy (2) 2
exome (2) 2
exome sequencing (2) 2
gene function (2) 2
genes (2) 2
health aspects (2) 2
high-throughput nucleotide sequencing (2) 2
homozygote (2) 2
human genetics (2) 2
hyperactivity (2) 2
intellectual disability (2) 2
limb-girdle muscular dystrophy (2) 2
management (2) 2
membrane proteins - genetics (2) 2
metabolic diseases (2) 2
metabolism (2) 2
molecular medicine (2) 2
neurosciences (2) 2
parasitic diseases (2) 2
patient (2) 2
physiological aspects (2) 2
practice guidelines (2) 2
pyroxd1 (2) 2
recessive mutations (2) 2
report (2) 2
spectrum (2) 2
treatment outcome (2) 2
15q13 (1) 1
15q13.3 syndrome (1) 1
3 syndrome (1) 1
6200 (1) 1
abridged index medicus (1) 1
acid (1) 1
acidemia (1) 1
aciduria (1) 1
adrenal cortex hormones - therapeutic use (1) 1
adult (1) 1
adults (1) 1
age (1) 1
alfacalcidol (1) 1
alleles (1) 1
allelic disorders (1) 1
alpha (1) 1
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid - metabolism (1) 1
ambulatory patients (1) 1
amino acid metabolism, inborn errors - complications (1) 1
ampa (1) 1
analysis (1) 1
and learning disability (1) 1
animals (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - diagnosis (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - drug therapy (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - pathology (1) 1
anti-nmdar encephalitis (1) 1
antibodies (1) 1
anticonvulsants (1) 1
antiepileptic drugs (1) 1
attention deficit disorder (1) 1
attention deficit hyperactivity disorder (1) 1
attention-deficit hyperactivity disorder (1) 1
authorship (1) 1
autism (1) 1
auto-antibodies (1) 1
autoantibodies - blood (1) 1
base sequence (1) 1
bibliographic data bases (1) 1
biology and life sciences (1) 1
blood proteins - genetics (1) 1
bone density (1) 1
bone turnover (1) 1
brain (1) 1
brain - diagnostic imaging (1) 1
brain diseases - genetics (1) 1
brain diseases, metabolic - complications (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2015, Volume 5, p. 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
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
Saudi Medical Journal, ISSN 0379-5284, 11/2015, Volume 36, Issue 11, pp. 1354 - 1357
Journal Article
PloS one, 2019, Volume 14, Issue 7, p. e0219239
High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and positive outcomes. The... 
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
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... 
Electroretinography | Kearns-Sayre Syndrome - pathology | Kearns-Sayre Syndrome - physiopathology | Humans | Adolescent | Retinal Diseases - pathology | Female | Male | Retinal Diseases - physiopathology | Retinal Perforations - pathology | Child | Retinitis Pigmentosa - pathology
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
Physiological genomics, ISSN 1094-8341, 11/2018, Volume 50, Issue 11, pp. 929 - 939
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps... 
CG10721 | exome sequencing | PYROXD1 | limb-girdle muscular dystrophy
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 542 - 552
Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy... 
allelic disorders | HX repeat | developmental delay | intellectual disability | dysmorphic | INTELLECTUAL DISABILITY | CAG REPEAT | PROTEIN | INTERACTS | PRODUCT | GENETICS & HEREDITY | RECESSIVE MUTATIONS | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | Genetic variation | Physiological aspects | Genetic aspects | Cognition disorders | Research | Mental retardation | Risk factors | Report
Journal Article
by Monies, Dorota and Abouelhoda, Mohammed and Assoum, Mirna and Moghrabi, Nabil and Rafiullah, Rafiullah and Almontashiri, Naif and Alowain, Mohammed and Alzaidan, Hamad and Alsayed, Moeen and Subhani, Shazia and Cupler, Edward and Faden, Maha and Alhashem, Amal and Qari, Alya and Chedrawi, Aziza and Aldhalaan, Hisham and Kurdi, Wesam and Khan, Sameena and Rahbeeni, Zuhair and Alotaibi, Maha and Goljan, Ewa and Elbardisy, Hadeel and ElKalioby, Mohamed and Shah, Zeeshan and Alruwaili, Hibah and Jaafar, Amal and Albar, Ranad and Akilan, Asma and Tayeb, Hamsa and Tahir, Asma and Fawzy, Mohammed and Nasr, Mohammed and Makki, Shaza and Alfaifi, Abdullah and Akleh, Hanna and Yamani, Suad and Bubshait, Dalal and Mahnashi, Mohammed and Basha, Talal and Alsagheir, Afaf and Abu Khaled, Musad and Alsaleem, Khalid and Almugbel, Maisoon and Badawi, Manal and Bashiri, Fahad and Bohlega, Saeed and Sulaiman, Raashida and Tous, Ehab and Ahmed, Syed and Algoufi, Talal and Al-Mousa, Hamoud and Alaki, Emadia and Alhumaidi, Susan and Alghamdi, Hadeel and Alghamdi, Malak and Sahly, Ahmed and Nahrir, Shapar and Al-Ahmari, Ali and Alkuraya, Hisham and Alkuraya, Fowzan S and Almehaidib, Ali and Abanemai, Mohammed and Alsohaibaini, Fahad and Alsaud, Bandar and Arnaout, Rand and Abdel-Salam, Ghada M.H and Aldhekri, Hasan and AlKhater, Suzan and Alqadi, Khalid and Alsabban, Essam and Alshareef, Turki and Awartani, Khalid and Banjar, Hanaa and Alsahan, Nada and Abosoudah, Ibraheem and Alashwal, Abdullah and Aldekhail, Wajeeh and Alhajjar, Sami and Al-Mayouf, Sulaiman and Alsemari, Abdulaziz and Alshuaibi, Walaa and Altala, Saeed and Altalhi, Abdulhadi and