Loading…
Loading…
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome
Faridi, R., Rehman, A.U., Morell, R.J., Friedman, P.L., Demain, L., Zahra, S., Khan, A.A., Tohlob, D., Assir, M.Z., Beaman, G., Khan, S.N., Newman, W.G., Riazuddin, S., Friedman, T.B.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
Get full text
Journal Article
Loading…
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
Dauber, Andrew, Nguyen, Thutrang T., Sochett, Etienne, Cole, David E. C., Horst, Ronald, Abrams, Steven A., Carpenter, Thomas O., Hirschhorn, Joel N.
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
Published in The journal of clinical endocrinology and metabolism (01.02.2012)
Get full text
Journal Article
Loading…
The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar
AbouHashem, Nadien, Zaied, Roan E., Al-Shafai, Kholoud, Nofal, Mariam, Syed, Najeeb, Al-Shafai, Mashael
Published in Obesity facts (01.05.2022)
Published in Obesity facts (01.05.2022)
Get full text
Journal Article
Loading…
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
Shaheen, Ranad, Mark, Paul, Prevost, Christopher T., AlKindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al‐Sheddi, Tarfa, Alobeid, Eman, Alenazi, Mona M., Ewida, Nour, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Bryant, Emily M., Spinelli, Egidio, Millichap, John, Barnett, Sarah S., Kearney, Hutton M., Accogli, Andrea, Scala, Marcello, Capra, Valeria, Nigro, Vincenzo, Fu, Dragony, Alkuraya, Fowzan S.
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
Get full text
Journal Article
Loading…
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome
Müller, Thomas, Mizumoto, Shuji, Suresh, Indrajit, Komatsu, Yoshie, Vodopiutz, Julia, Dundar, Munis, Straub, Volker, Lingenhel, Arno, Melmer, Andreas, Lechner, Silvia, Zschocke, Johannes, Sugahara, Kazuyuki, Janecke, Andreas R.
Published in Human molecular genetics (15.09.2013)
Published in Human molecular genetics (15.09.2013)
Get full text
Journal Article
Loading…
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
Get full text
Journal Article
Loading…
Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes
Yasmin, Tahira, Andres, Erin M., Ashraf, Komal, Basra, Muhammad Asim Raza, Raza, Muhammad Hashim
Published in Annals of human biology (01.02.2023)
Published in Annals of human biology (01.02.2023)
Get full text
Journal Article
Loading…
Loading…
Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan
Naqvi, Syeda Farwa, Ameena, Umi, Qazi, Waheed Uddin, Ahmad, Salman, Iqbal, Anjum, Malik, Sajid
Published in Pakistan journal of medical sciences (01.11.2024)
Published in Pakistan journal of medical sciences (01.11.2024)
Get full text
Journal Article
Loading…
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K, Pace, James M, Pepin, Melanie G, Weis, MaryAnn, Eyre, David R, Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J, Krakow, Deborah, Rimoin, David L, Cohn, Daniel H, Byers, Peter H, Lee, Brendan
Published in Human mutation (01.12.2008)
Published in Human mutation (01.12.2008)
Get full text
Journal Article
Loading…
Burden of neurodevelopmental disorder in Lakki Marwat population of Khyber Pakhtunkhwa, Pakistan
Sheraz, Muhammad, Iqbal, Maria, Khan, Sumaiya, Majeed, Sabeena, Hameed, Zahid, Khan, Ikram Ullah, Ullah, Sami, Khan, Amjad
Published in Journal of health, population and nutrition (18.12.2024)
Published in Journal of health, population and nutrition (18.12.2024)
Get full text
Journal Article
Loading…
Novel LEPR mutations in obese Pakistani children identified by PCR‐based enrichment and next generation sequencing
Saeed, Sadia, Bonnefond, Amélie, Manzoor, Jaida, Philippe, Julien, Durand, Emmanuelle, Arshad, Mohsin, Sand, Olivier, Butt, Taeed A, Falchi, Mario, Arslan, Muhammad, Froguel, Philippe
Published in Obesity (Silver Spring, Md.) (01.04.2014)
Published in Obesity (Silver Spring, Md.) (01.04.2014)
Get full text
Journal Article
Loading…
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
Shahin, Hashem, Walsh, Tom, Rayyan, Amal Abu, Lee, Ming K, Higgins, Jake, Dickel, Diane, Lewis, Kristen, Thompson, James, Baker, Carl, Nord, Alex S, Stray, Sunday, Gurwitz, David, Avraham, Karen B, King, Mary-Claire, Kanaan, Moien
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
Get full text
Journal Article
Loading…
THU0137 Impact of periodontal and rheumatic disease markers on first-degree relatives of patients with rheumatoid arthritis according to age group
Romero-Sanchez, C, Giraldo, S, De-Avila, J, Cano-Bermuedez, MA, Chila-M., L, Bello-Gualtero, J, Chalem, P, Bautista, W, Londono, J, Pacheco-Tena, C, Lafaurie, G, Valle-Oñate, R
Published in Annals of the rheumatic diseases (01.06.2017)
Published in Annals of the rheumatic diseases (01.06.2017)
Get full text
Journal Article
Loading…
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism
Rozenkova, Klara, Malikova, Jana, Nessa, Azizun, Dusatkova, Lenka, Bjørkhaug, Lise, Obermannova, Barbora, Dusatkova, Petra, Kytnarova, Jitka, Aukrust, Ingvild, Najmi, Laeya A., Rypackova, Blanka, Sumnik, Zdenek, Lebl, Jan, Njølstad, Pål R., Hussain, Khalid, Pruhova, Stepanka
Published in The journal of clinical endocrinology and metabolism (01.12.2015)
Published in The journal of clinical endocrinology and metabolism (01.12.2015)
Get full text
Journal Article
Loading…
The oxytocin receptor gene polymorphism rs2268491 and serum oxytocin alterations are indicative of autism spectrum disorder: A case-control paediatric study in Iraq with personalized medicine implications
Al-Ali, Zainab, Yasseen, Akeel Abed, Al-Dujailli, Arafat, Al-Karaqully, Ahmed Jafar, McAllister, Katherine Ann, Jumaah, Alaa Salah
Published in PloS one (22.03.2022)
Published in PloS one (22.03.2022)
Get full text
Journal Article
Loading…
Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease
Demirkaya, Erkan, Zhou, Qing, Smith, Carolyne K., Ombrello, Michael J., Deuitch, Natalie, Tsai, Wanxia L., Hoffmann, Patrycja, Remmers, Elaine F., Takeuchi, Masaki, Park, Yong Hwan, Chae, JaeJin, Barut, Kenan, Simsek, Dogan, Adrovic, Amra, Sahin, Sezgin, Caliskan, Salim, Chandrasekharappa, Settara C., Hasni, Sarfaraz A., Ombrello, Amanda K., Gadina, Massimo, Kastner, Daniel L., Kaplan, Mariana J., Kasapcopur, Ozgur, Aksentijevich, Ivona
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2017)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2017)
Get full text
Journal Article
Loading…
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population
Ramzan, Khushnooda, Al‐Owain, Mohammed, Al‐Numair, Nouf S., Afzal, Sibtain, Al‐Ageel, Sarah, Al‐Amer, Sultan, Al‐Baik, Lina, Al‐Otaibi, Ghoson F., Hashem, Amal, Al‐Mashharawi, Eman, Basit, Sulman, Al‐Mazroea, Abdal H., Softah, Ameen, Sogaty, Sameera, Imtiaz, Faiqa
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2020)
Get full text
Journal Article