Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

por Alsmadi, Osama, Alkayal, Fadi, Monies, Dorota, Meyer, Brian F
Publicado 2009

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

por Alsmadi, Osama A, Al-Kayal, Fadi, Al-Hamed, Mohamed, Meyer, Brian F
Publicado 2006

Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

por Al-Sayed, Moeenaldeen, Imtiaz, Faiqa, Alsmadi, Osama A, Rashed, Mohammed S, Meyer, Brian F
Publicado 2006

Replication of Type 2 diabetes-associated variants in a Saudi Arabian population

por Li-Gao, Ruifang, Wakil, Salma M., Meyer, Brian F., Dzimiri, Nduna, Mook-Kanamori, Dennis O.
Publicado 2018

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

por Kor, Yılmaz, Zou, Minjing, Al-Rijjal, Roua A., Monies, Dorota, Meyer, Brian F., Shi, Yufei
Publicado 2018

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

por Abouelhoda, Mohamed, Mohty, Dania, Alayary, Islam, Meyer, Brian F., Arold, Stefan T., Fadel, Bahaa M., Monies, Dorota
Publicado 2021

Clinical and genetic features of anoctaminopathy in Saudi Arabia

por Bohlega, Saeed, Monies, Dorothy M., Abulaban, Ahmad A., Murad, Hatem N., Alhindi, Hindi N., Meyer, Brian F.
Publicado 2015

A novel KIT mutation in a family with expanded syndrome of piebaldism

por Hamadah, Issam, Chisti, Muzamil, Haider, Mansoor, Al Dosssari, Haya, Alhumaidan, Rawan, Meyer, Brian F., Wakil, Salma M.
Publicado 2019

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population

por Goljan, Ewa, Abouelhoda, Mohammed, ElKalioby, Mohamed M., Jabaan, Amjad, Alghithi, Nada, Meyer, Brian F., Monies, Dorota
Publicado 2022

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

por Imtiaz, Faiqa, Al-Sayed, Moeen, Trabzuni, Danyah, Al-Mubarak, Bashair R, Alsmadi, Osama, Rashed, Mohamed S, Meyer, Brian F
Publicado 2010

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

por Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota
Publicado 2017

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

por Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota
Publicado 2017

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

por Zou, Minjing, Guven, Ayla, BinEssa, Huda A., Al-Rijjal, Roua A., Meyer, Brian F., Alzahrani, Ali S., Shi, Yufei
Publicado 2020

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

por BOHLEGA, SAEED A., ALFAWAZ, SARAH, ABOU-AL-SHAAR, HUSSAM, AL-HINDI, HINDI N., MURAD, HATEM N., BOHLEGA, MOHAMED S., MEYER, BRIAN F., MONIES, DOROTA
Publicado 2018

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population

por Alsmadi, Osama, Al-Rubeaan, Khalid, Mohamed, Gamal, Alkayal, Fadi, Al-Saud, Haya, Al-Saud, Nouran Abu, Al-Daghri, Nasser, Mohammad, Shahinaz, Meyer, Brian F
Publicado 2008

The 3′-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits

por Muiya, Nzioka, Al-Najai, Mohammed, Tahir, Asma I, Elhawari, Samar, Gueco, Daisy, Andres, Editha, Mazhar, Nejat, Altassan, Nada, Meyer, Brian F, Alshahid, Maie, Dzimiri, Nduna
Publicado 2013

The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs

por Wakil, Salma M., Nguyen, Cao, Muiya, Nzioka P., Andres, Editha, Lykowska-Tarnowska, Agnieszka, Baz, Batoul, Tahir, Asma I., Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna
Publicado 2015

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3

por Alshahid, Maie, Wakil, Salma M, Al-Najai, Mohammed, Muiya, Nzioka P, Elhawari, Samar, Gueco, Daisy, Andres, Editha, Hagos, Samia, Mazhar, Nejat, Meyer, Brian F, Dzimiri, Nduna
Publicado 2013

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

por Imtiaz, Faiqa, Taibah, Khalid, Bin-Khamis, Ghada, Kennedy, Shelley, Hemidan, Amal, Al-Qahtani, Faisal, Tabbara, Khalid, Mubarak, Bashayer Al, Ramzan, Khushnooda, Meyer, Brian F., Al-Owain, Mohammed
Publicado 2012

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders

por Muiya, Nzioka P, Wakil, Salma M, Tahir, Asma I, Hagos, Samya, Najai, Mohammed, Gueco, Daisy, Al-Tassan, Nada, Andres, Editha, Mazher, Nejat, Meyer, Brian F, Dzimiri, Nduna
Publicado 2013