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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
Annals of Thoracic Medicine, ISSN 1817-1737, 04/2015, Volume 10, Issue 2, pp. 146 - 149
Human bocavirus (HBoV) is a major etiology of lower respiratory tract infection (LRTI) in young children. We tested 149 patients admitted to King Fahd Hospital... 
saudi Arabia | children | Viremia | saudi arabia | CARDIAC & CARDIOVASCULAR SYSTEMS | RESPIRATORY SYSTEM | INFECTION | YOUNG-CHILDREN | Respiratory tract infections | Case studies | Parvoviruses | Causes of | Diagnosis | Drug therapy | Health aspects | Case Report
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 06/2018, Volume 61, Issue 6, pp. 307 - 311
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were either identified through the Saudi National Newborn Screening... 
Medical genetics
Journal Article
Journal Article
Application of Clinical Genetics, ISSN 1178-704X, 2018, Volume 11, pp. 107 - 110
Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular... 
D409H | Aortic calcification | Gaucher disease | Calcification | Enzymes | Saccades (Eye movements) | Health care industry | Heart | Pediatrics | Cornea | Blood tests | Cardiovascular disease | Eye movements | Patients | Minority & ethnic groups | Genotype & phenotype | Ultrasonic imaging | Coronary vessels | Hemoglobin | Mutation | Age | Siblings
Journal Article
Journal Article
by Maas, Roeltje R and Iwanicka‐Pronicka, Katarzyna and Kalkan Ucar, Sema and Alhaddad, Bader and AlSayed, Moeenaldeen and Al‐Owain, Mohammed A and Al‐Zaidan, Hamad I and Balasubramaniam, Shanti and Barić, Ivo and Bubshait, Dalal K and Burlina, Alberto and Christodoulou, John and Chung, Wendy K and Colombo, Roberto and Darin, Niklas and Freisinger, Peter and Garcia Silva, Maria Teresa and Grunewald, Stephanie and Haack, Tobias B and van Hasselt, Peter M and Hikmat, Omar and Hörster, Friederike and Isohanni, Pirjo and Ramzan, Khushnooda and Kovacs‐Nagy, Reka and Krumina, Zita and Martin‐Hernandez, Elena and Mayr, Johannes A and McClean, Patricia and De Meirleir, Linda and Naess, Karin and Ngu, Lock H and Pajdowska, Magdalena and Rahman, Shamima and Riordan, Gillian and Riley, Lisa and Roeben, Benjamin and Rutsch, Frank and Santer, Rene and Schiff, Manuel and Seders, Martine and Sequeira, Silvia and Sperl, Wolfgang and Staufner, Christian and Synofzik, Matthis and Taylor, Robert W and Trubicka, Joanna and Tsiakas, Konstantinos and Unal, Ozlem and Wassmer, Evangeline and Wedatilake, Yehani and Wolff, Toni and Prokisch, Holger and Morava, Eva and Pronicka, Ewa and Wevers, Ron A and de Brouwer, Arjan P and Wortmann, Saskia B and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 50 - 54
Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid... 
Pompe disease | Glycogen storage disease type II | Enzyme replacement therapy | GAA | GENE | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | MUTATIONS | LESSONS | IDENTIFICATION | CHILDREN
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 Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and AlBalwi, Mohammed and ...
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1182 - 1201
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of... 
knockout | clinical genomics | hybrid phenotype | phenotypic expansion | multilocus phenotypes | fetal malformation | autozygome | genomics-first | exome | gonadal mosaicism | expanded carrier screening | candidate genes | first-tier | prenatal | dual diagnosis | Usage | Phenotype | Care and treatment | Analysis | Mosaicism | Genetic aspects | Nucleotide sequencing | DNA sequencing
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 Khaled, Musad Abu 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 Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and AlBalwi, Mohammed and ...
The American Journal of Human Genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 879 - 879
Journal Article
Drug Discoveries & Therapeutics, ISSN 1881-7831, 2016
Biotin responsive basal ganglia disease (BBGD), is a potentially treatable inherited metabolic disorder which clinically presents as sub-acute encephalopathy... 
Basal ganglia disease | biotin | thiamine | depression
Journal Article