Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

por Abdelkader, Ehab, Enani, Lama, Schatz, Patrik, Safieh, Leen
Publicado 2018

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease

por Jomar, Deema E., Albakri, Amani S., Safieh, Leen Abu, Nowilaty, Sawsan R.
Publicado 2022

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy

por Safieh, Leen Abu, Al-Otaibi, Humoud M., Lewis, Richard Alan, Kozak, Igor
Publicado 2016

Corneal Vascularization Associated With a Novel PDGFRB Variant

por Gladkauskas, Titas, Bruland, Ove, Abu Safieh, Leen, Edward, Deepak P., Rødahl, Eyvind, Bredrup, Cecilie
Publicado 2023

Advanced coats-like retinopathy as the initial presentation of Familial Retinal Arterial Macroaneurysms

por Alsulaiman, Sulaiman M., Abu-Safieh, Leen, AlJarallah, Abdullah S., AlAbdulhafid, Majed, AlKahtani, Eman S.
Publicado 2018

MicroRNA Profiling in Intraocular Medulloepitheliomas

por Edward, Deepak P., Alkatan, Hind, Rafiq, Qundeel, Eberhart, Charles, Al Mesfer, Saleh, Ghazi, Nicola, Al Safieh, Leen, Kondkar, Altaf A., Abu Amero, Khaled K.
Publicado 2015

Factors that influence a patient’s decision to engage in genetic research

por Almutairi, Amal, Alqubaishi, Fatimah Abdulrahman, Alsolm, Ebtehal A., Binowayn, Albandari, Almohammad, Rania, Wani, Tariq, Ababtain, Aljohara, Alkadi, Udai, Alrashed, May M., Althagafi, Malak, Abu-Safieh, Leen
Publicado 2023

Molecular characterization of retinitis pigmentosa in Saudi Arabia

por Aldahmesh, Mohammed A., Abu Safieh, Leen, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O., Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F., Alkuraya, Fowzan S.
Publicado 2009

MBCL-01. METHYLATION PROFILING OF PEDIATRIC MEDULLOBLASTOMA IN SAUDI ARABIA IN A CLINICAL SETTING PERMITS SUB-CLASSIFICATION AND REVEALS NEW OUTCOME PREDICTIONS

por Alharbi, Musa, Mobark, Nahla, Balbaid, Ali Abdullah O, Bashawri, Yara, Safieh, Leen Abu, Alowayn, Albandary, Alaljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, Alqubaishi, Fatmah, Alsolm, Ebtehal, Ahmad, Maqsood, Al-Banyan, Ayman, Alotabi, Fahad E, Snuderl, Matija, Abedalthagafi, Malak
Publicado 2020

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

por Bredrup, Cecilie, Cristea, Ileana, Safieh, Leen Abu, Di Maria, Emilio, Gjertsen, Bjørn Tore, Tveit, Kåre Steinar, Thu, Frode, Bull, Nils, Edward, Deepak P, Hennekam, Raoul C M, Høvding, Gunnar, Haugen, Olav H, Houge, Gunnar, Rødahl, Eyvind, Bruland, Ove
Publicado 2021

ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma

por Asnaghi, Laura, White, David T., Key, Nolan, Choi, Joshua, Mahale, Alka, Alkatan, Hind, Edward, Deepak P., Elkhamary, Sahar M., Al-Mesfer, Saleh, Maktabi, Azza, Hurtado, Christopher G., Lee, Grace Y., Carcaboso, Angel M., Mumm, Jeff S., Safieh, Leen Abu, Eberhart, Charles G.
Publicado 2018

Methylation Profiling of Medulloblastoma in a Clinical Setting Permits Sub-classification and Reveals New Outcome Predictions

por Alharbi, Musa, Mobark, Nahla, Bashawri, Yara, Abu Safieh, Leen, Alowayn, Albandary, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, Alqubaishi, Fatimah, AlSolme, Ebtehal, Ahmad, Maqsood, Al-Banyan, Ayman, Alotabi, Fahad E., Serrano, Jonathan, Snuderl, Matija, Al-Rashed, May, Abedalthagafi, Malak
Publicado 2020

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

por Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.
Publicado 2013