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

af Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Udgivet 2011

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

af Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Udgivet 2014

TLE6 mutation causes the earliest known human embryonic lethality

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

The many faces of KIF7

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

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

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

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

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

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

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

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

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

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

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

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

af 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.
Udgivet i BMC Med Genet (2019)

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

af 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.
Udgivet i BMC Genomics (2016)

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

af 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
Udgivet 2012-10-01

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

af 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
Udgivet 2012

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

af 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
Udgivet i J Clin Immunol (2020)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

af 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.
Udgivet i Am J Hum Genet (2015)

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

af 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.
Udgivet i BMC Neurol (2016)

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

af 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
Udgivet i Front Immunol (2018)

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

af 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
Udgivet i Hum Genomics (2016)

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

af 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.
Udgivet 2008

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

af 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.
Udgivet i J Exp Med (2019)