Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3
Zeng, Wen-Qi, Al-Yamani, Eiman, Acierno, James S., Slaugenhaupt, Susan, Gillis, Tammy, MacDonald, Marcy E., Ozand, Pinar T., Gusella, James F.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Journal Article
Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old
Colak, Dilek, Chishti, Muhammad A, Al-Bakheet, Al-Bandary, Al-Qahtani, Ahmed, Shoukri, Mohamed M, Goyns, Malcolm H, Ozand, Pinar T, Quackenbush, John, Park, Ben H, Kaya, Namik
Published in Molecular cancer (12.06.2010)
Published in Molecular cancer (12.06.2010)
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Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
Al-Zahrani, Jawaher, Al-Dosari, Naji, Abudheim, Nada, Alshidi, Tarfa A, Colak, Dilek, Al-Habit, Ola, Al-Odaib, Ali, Sakati, Nadia, Meyer, Brian, Ozand, Pinar T, Kaya, Namik
Published in Molecular cytogenetics (02.04.2011)
Published in Molecular cytogenetics (02.04.2011)
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Journal Article
Clinical and biochemical features associated with BCS1L mutation
Al-Owain, Mohammed, Colak, Dilek, Albakheet, Albandary, Al-Younes, Banan, Al-Humaidi, Zainab, Al-Sayed, Moeen, Al-Hindi, Hindi, Al-Sugair, Abdulaziz, Al-Muhaideb, Ahmed, Rahbeeni, Zuhair, Al-Sehli, Abdullah, Al-Fadhli, Fatima, Ozand, Pinar T., Taylor, Robert W., Kaya, Namik
Published in Journal of inherited metabolic disease (01.09.2013)
Published in Journal of inherited metabolic disease (01.09.2013)
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Journal Article
A novel X-linked disorder with developmental delay and autistic features
Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Al-Owain, Mohammad, Abu-Dheim, Nada, Al-Younes, Banan, Al-Zahrani, Jawaher, Mukaddes, Nahit M., Dervent, Aysin, Al-Dosari, Naji, Al-Odaib, Ali, Kayaalp, Inci V., Al-Sayed, Moeenaladin, Al-Hassnan, Zuhair, Nester, Michael J., Al-Dosari, Mohammad, Al-Dhalaan, Hesham, Chedrawi, Aziza, Gunoz, Hulya, Karakas, Bedri, Sakati, Nadia, Alkuraya, Fowzan S., Gascon, Generaso G., Ozand, Pinar T.
Published in Annals of neurology (01.04.2012)
Published in Annals of neurology (01.04.2012)
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Journal Article
GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
Kaya, Namik, Owain, Mohammad Al, AbuDheim, Nada, Zahrani, Jawaher Al, Colak, Dilek, Sayed, Moeen Al, Milanlioglu, Aysel, Ozand, Pinar T., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
Rashed, Mohamed S, Bucknall, Martin P, Little, Douglas, Awad, Amin, Jacob, Minnie, Alamoudi, Mohamed, Alwattar, Mona, Ozand, Pinar T
Published in Clinical chemistry (Baltimore, Md.) (01.07.1997)
Published in Clinical chemistry (Baltimore, Md.) (01.07.1997)
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Conference Proceeding
Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease
Al-Essa, Mohammed A, Bakheet, Siema M, Patay, Zoltan J, Powe, John E, Ozand, Pinar T
Published in Brain & development (Tokyo. 1979) (01.03.2000)
Published in Brain & development (Tokyo. 1979) (01.03.2000)
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Journal Article
Biotin-responsive basal ganglia disease : a novel entity
OZAND, P. T, GASCON, G. G, AL ESSA, M, JOSHI, S, AL JISHI, E, BAKHEET, S, AL WATBAN, J, ZUHEIR AL-KAWI, M, DABBAGH, O
Published in Brain (London, England : 1878) (01.07.1998)
Published in Brain (London, England : 1878) (01.07.1998)
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Journal Article
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome
Al-Odaib, Ali, Rashed, Mohamed, Page, Theodore, Nyhan, William, Ozand, Pinar T
Published in Saudi medical journal (01.05.2006)
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Published in Saudi medical journal (01.05.2006)
Journal Article
A simple, rapid test for the differential diagnosis of glycogen storage disease type 3
Bhuiyan, Jalaluddin, Al Odaib, Ali N., Ozand, Pinar T.
Published in Clinica chimica acta (01.09.2003)
Published in Clinica chimica acta (01.09.2003)
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Journal Article
A new era for preventive genetic programs in the Arabian Peninsula
Al-Odaib, Ali N, Abu-Amero, Khaled K, Ozand, Pinar T, Al-Hellani, Ali M
Published in Saudi medical journal (01.11.2003)
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Published in Saudi medical journal (01.11.2003)
Journal Article
Ophthalmic Manifestations of Sanjad-Sakati Syndrome
Al Dhoyan, Norah, Al Hemidan, Amal I., Ozand, Pinar T.
Published in Ophthalmic genetics (01.09.2006)
Published in Ophthalmic genetics (01.09.2006)
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Journal Article
Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease
al-Essa, M A, Rashed, M S, Bakheet, S M, Patay, Z J, Ozand, P T
Published in Journal of perinatology (01.03.2000)
Published in Journal of perinatology (01.03.2000)
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Journal Article
Carnitine prevents cyclic GMP-induced inhibition of peroxisomal enzyme activities
Dhaunsi, Gursev S., Al-Essa, Mazen, Ozand, Pinar T., Moosa, Allie
Published in Cell biochemistry and function (01.11.2004)
Published in Cell biochemistry and function (01.11.2004)
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