Specialty Grand Challenge – Genetic Disorders

অনুযায়ী Al-Aama, Jumana Y.
প্রকাশিত 2013

Cenani–Lenz syndrome-like limb anomaly with more severe involvement of left side

অনুযায়ী Ahmed, Saleem, Al-Aama, Jumana Yousef
প্রকাশিত 2012

Femoral–facial syndrome in an infant of a diabetic mother

অনুযায়ী Ahmed, Saleem, Alsaedi, Saad Abdullah, Al-Wassia, Heidi, Al-Aama, Jumana Yousef
প্রকাশিত BMJ Case Rep (2015)

Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

অনুযায়ী A. Gaboon, Nagwa E., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
প্রকাশিত J Pediatr Genet (2017)

Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

অনুযায়ী Gaboon, Nagwa E. A., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
প্রকাশিত J Pediatr Genet (2017)

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia

অনুযায়ী Bhuiyan, Zahurul A., Al-Shahrani, Safar, Al-Aama, Jumana, Wilde, Arthur A. M., Momenah, Tarek S.
প্রকাশিত 2013

Effect of Ramadan fasting in Saudi Arabia on serum bone profile and immunoglobulins

অনুযায়ী Bahijri, Suhard M., Ajabnoor, Ghada M., Borai, Anwar, Al-Aama, Jumana Y., Chrousos, George P.
প্রকাশিত Ther Adv Endocrinol Metab (2015)

Health Impact of Fasting in Saudi Arabia during Ramadan: Association with Disturbed Circadian Rhythm and Metabolic and Sleeping Patterns

অনুযায়ী Ajabnoor, Ghada M., Bahijri, Suhad, Borai, Anwar, Abdulkhaliq, Altaf A., Al-Aama, Jumana Y., Chrousos, George P.
প্রকাশিত 2014

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

অনুযায়ী Gaboon, Nagwa E. A., Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y., Alsaedi, Mosab S., Wasif, Naveed
প্রকাশিত Front Pediatr (2019)

Generating inner ear organoids containing putative cochlear hair cells from human pluripotent stem cells

অনুযায়ী Jeong, Minjin, O’Reilly, Molly, Kirkwood, Nerissa K., Al-Aama, Jumana, Lako, Majlinda, Kros, Corné J., Armstrong, Lyle
প্রকাশিত Cell Death Dis (2018)

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

অনুযায়ী Rahman, Obaid Ur, Khawar, Nadeem, Khan, Muhammad Aman, Ahmed, Jawad, Khattak, Kamran, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Jelani, Musharraf
প্রকাশিত 2013

Ramadan fasting in Saudi Arabia is associated with altered expression of CLOCK, DUSP and IL-1alpha genes, as well as changes in cardiometabolic risk factors

অনুযায়ী Ajabnoor, Ghada M. A., Bahijri, Suhad, Shaik, Noor Ahmad, Borai, Anwar, Alamoudi, Aliaa A., Al-Aama, Jumana Y., Chrousos, George P.
প্রকাশিত PLoS One (2017)

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

অনুযায়ী Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
প্রকাশিত Front Pediatr (2020)

Truncating mutation in intracellular phospholipase A(1) gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

অনুযায়ী Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
প্রকাশিত BMC Res Notes (2015)

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

অনুযায়ী Mohamoud, Hussein Sheikh, Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Childs, Kay, Vadgama, Nirmal, Almramhi, Mona Mohammad, Al-Aama, Jumana Yousuf, Goodbourn, Steve, Nasir, Jamal
প্রকাশিত Sci Rep (2018)

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

অনুযায়ী Alallasi, Sami Raja, Kokandi, Amal A., Banagnapali, Babajan, Shaik, Noor Ahmad, Al-Shehri, Bandar Ali, Alrayes, Nuha Mohammad, Al-Aama, Jumana Yousuf, Jelani, Musharraf
প্রকাশিত Front Pediatr (2019)

BRAF gene: From human cancers to developmental syndromes

অনুযায়ী Hussain, Muhammad Ramzan Manwar, Baig, Mukhtiar, Mohamoud, Hussein Sheik Ali, Ulhaq, Zaheer, Hoessli, Daniel C., Khogeer, Ghaidaa Siraj, Al-Sayed, Ranem Radwan, Al-Aama, Jumana Yousuf
প্রকাশিত Saudi J Biol Sci (2015)

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

অনুযায়ী Kamal, Naglaa M., Sahly, Ahmed N., Banaganapalli, Babajan, Rashidi, Omran M., Shetty, Preetha J., Al-Aama, Jumana Y., Shaik, Noor A., Elango, Ramu, Saadah, Omar I.
প্রকাশিত Saudi J Biol Sci (2020)

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

অনুযায়ী Awan, Zuhier Ahmed, Rashidi, Omran M., Al-Shehri, Bandar Ali, Jamil, Kaiser, Elango, Ramu, Al-Aama, Jumana Y., Hegele, Robert A., Banaganapalli, Babajan, Shaik, Noor A.
প্রকাশিত Front Med (Lausanne) (2021)

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

অনুযায়ী Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
প্রকাশিত Saudi J Biol Sci (2016)