A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

অনুযায়ী Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
প্রকাশিত 2011

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

অনুযায়ী Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
প্রকাশিত 2014

TLE6 mutation causes the earliest known human embryonic lethality

অনুযায়ী Alazami, Anas M., Awad, Salma M., Coskun, Serdar, Al-Hassan, Saad, Hijazi, Hadia, Abdulwahab, Firdous M., Poizat, Coralie, Alkuraya, Fowzan S.
প্রকাশিত Genome Biol (2015)

The many faces of KIF7

অনুযায়ী Barakeh, Duna, Faqeih, Eissa, Anazi, Shams, S Al-Dosari, Mohammed, Softah, Ameen, Albadr, Fahad, Hassan, Hamdy, Alazami, Anas M, Alkuraya, Fowzan S
প্রকাশিত Hum Genome Var (2015)

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

অনুযায়ী Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
প্রকাশিত 2009

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

অনুযায়ী Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
প্রকাশিত 2009

PUS7 Mutations Impair Pseudouridylation in Humans and Cause Intellectual Disability and Microcephaly

অনুযায়ী Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdulsalam, Ghada, Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S
প্রকাশিত Hum Genet (2019)

Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

অনুযায়ী Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah
প্রকাশিত Sci Rep (2018)

Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

অনুযায়ী Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah
প্রকাশিত Sci Rep (2018)

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

অনুযায়ী Wakil, Salma M., Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T., Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M.
প্রকাশিত BMC Med Genet (2019)

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

অনুযায়ী Holohan, Brody, Kim, Wanil, Lai, Tsung-Po, Hoshiyama, Hirotoshi, Zhang, Ning, Alazami, Anas M., Wright, Woodring E., Meyn, M. Stephen, Alkuraya, Fowzan S., Shay, Jerry W.
প্রকাশিত BMC Genomics (2016)

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

অনুযায়ী Seidahmed Mohammed, Salih Mustafa A, Abdulbasit Omer B, Shaheed Meeralebbae, Al Hussein Khalid, Miqdad Abeer M, Al Rasheed Abdullah K, Alazami Anas M, Alorainy Ibrahim A, Alkuraya Fowzan S
প্রকাশিত 2012-10-01

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

অনুযায়ী Seidahmed, Mohammed Zein, Salih, Mustafa A, Abdulbasit, Omer B, Shaheed, Meeralebbae, Al Hussein, Khalid, Miqdad, Abeer M, Al Rasheed, Abdullah K, Alazami, Anas M, Alorainy, Ibrahim A, Alkuraya, Fowzan S
প্রকাশিত 2012

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

অনুযায়ী Aljohani, Amal H., Al-Mousa, Hamoud, Arnaout, Rand, Al-Dhekri, Hasan, Mohammed, Reem, Alsum, Zobaida, Nicolas-Jilwan, Manal, Alrogi, Fayhan, Al-Muhsen, Saleh, Alazami, Anas M., Al-Saud, Bandar
প্রকাশিত J Clin Immunol (2020)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

অনুযায়ী Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
প্রকাশিত Am J Hum Genet (2015)

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

অনুযায়ী Seidahmed, Mohammed Zain, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S.
প্রকাশিত BMC Neurol (2016)

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

অনুযায়ী Alazami, Anas M., Al-Helale, Maryam, Alhissi, Safa, Al-Saud, Bandar, Alajlan, Huda, Monies, Dorota, Shah, Zeeshan, Abouelhoda, Mohamed, Arnaout, Rand, Al-Dhekri, Hasan, Al-Numair, Nouf S., Ghebeh, Hazem, Sheikh, Farrukh, Al-Mousa, Hamoud
প্রকাশিত Front Immunol (2018)

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

অনুযায়ী Monies, Dorota, Alhindi, Hindi N., Almuhaizea, Mohamed A., Abouelhoda, Mohamed, Alazami, Anas M., Goljan, Ewa, Alyounes, Banan, Jaroudi, Dyala, AlIssa, Abdulelah, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma M., Altassan, Nada A., Meyer, Brian F., Bohlega, Saeed
প্রকাশিত Hum Genomics (2016)

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

অনুযায়ী Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.
প্রকাশিত 2008

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

অনুযায়ী Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R., McDonald, David, Mata, Carlos P., Modis, Yorgo, Alazami, Anas M., Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F., Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D., Thaventhiran, James E., Engelhardt, Karin R., Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G.C., Lenardo, Michael J.
প্রকাশিত J Exp Med (2019)