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

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Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant von Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

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In search of triallelism in Bardet-Biedl syndrome von ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y

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Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms von Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.

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Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations von Khan, Arif O., MD, Al-Abdi, Lama, BSc, Mohamed, Jawahir Y., BSc, Aldahmesh, Mohammed A., PhD, Alkuraya, Fowzan S., MD

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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits von Zha, Congyao, Farah, Carole A, Holt, Richard J, Ceroni, Fabiola, Al-Abdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola K, Sossin, Wayne S

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CNP deficiency causes severe hypomyelinating leukodystrophy in humans von Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder von Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A.

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Surgical Outcomes of Retinal Detachment in Knobloch Syndrome von Alzaben, Khawlah A., Mousa, Ahmed, Al-Abdi, Lama, Alkuraya, Fowzan S., Alsulaiman, Sulaiman M.

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AfriMTE and AfriCOMET: Enhancing COMET to Embrace Under-resourced African Languages von Wang, Jiayi, Adelani, David Ifeoluwa, Agrawal, Sweta, Masiak, Marek, Rei, Ricardo, Briakou, Eleftheria, Carpuat, Marine, He, Xuanli, Bourhim, Sofia, Bukula, Andiswa, Mohamed, Muhidin, Olatoye, Temitayo, Adewumi, Tosin, Mokayed, Hamam, Mwase, Christine, Kimotho, Wangui, Yuehgoh, Foutse, Aremu, Anuoluwapo, Ojo, Jessica, Muhammad, Shamsuddeen Hassan, Osei, Salomey, Omotayo, Abdul-Hakeem, Chukwuneke, Chiamaka, Ogayo, Perez, Hourrane, Oumaima, Anigri, Salma El, Ndolela, Lolwethu, Mangwana, Thabiso, Mohamed, Shafie Abdi, Hassan, Ayinde, Awoyomi, Oluwabusayo Olufunke, Alkhaled, Lama, Al-Azzawi, Sana, Etori, Naome A, Ochieng, Millicent, Siro, Clemencia, Njoroge, Samuel, Muchiri, Eric, Kimotho, Wangari, Momo, Lyse Naomi Wamba, Abolade, Daud, Ajao, Simbiat, Shode, Iyanuoluwa, Macharm, Ricky, Iro, Ruqayya Nasir, Abdullahi, Saheed S, Moore, Stephen E, Opoku, Bernard, Akinjobi, Zainab, Afolabi, Abeeb, Obiefuna, Nnaemeka, Ogbu, Onyekachi Raphael, Brian, Sam, Otiende, Verrah Akinyi, Mbonu, Chinedu Emmanuel, Sari, Sakayo Toadoum, Lu, Yao, Stenetorp, Pontus

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AfriMTE and AfriCOMET: Enhancing COMET to Embrace Under-resourced African Languages von Wang, Jiayi, Adelani, David Ifeoluwa, Agrawal, Sweta, Masiak, Marek, Rei, Ricardo, Briakou, Eleftheria, Carpuat, Marine, He, Xuanli, Bourhim, Sofia, Bukula, Andiswa, Muhidin Mohamed, Olatoye, Temitayo, Adewumi, Tosin, Hamam Mokayed, Mwase, Christine, Wangui Kimotho, Yuehgoh, Foutse, Aremu, Anuoluwapo, Ojo, Jessica, Shamsuddeen Hassan Muhammad, Osei, Salomey, Abdul-Hakeem Omotayo, Chukwuneke, Chiamaka, Perez Ogayo, Hourrane, Oumaima, Salma El Anigri, Ndolela, Lolwethu, Mangwana, Thabiso, Shafie, Abdi Mohamed, Ayinde Hassan, Oluwabusayo Olufunke Awoyomi, Alkhaled, Lama, Al-Azzawi, Sana, Etori, Naome A, Ochieng, Millicent, Siro, Clemencia, Njoroge, Samuel, Muchiri, Eric, Wangari Kimotho, Lyse Naomi Wamba Momo, Daud Abolade, Ajao, Simbiat, Shode, Iyanuoluwa, Macharm, Ricky, Ruqayya Nasir Iro, Abdullahi, Saheed S, Moore, Stephen E, Opoku, Bernard, Akinjobi, Zainab, Afolabi, Abeeb, Obiefuna, Nnaemeka, Onyekachi Raphael Ogbu, Sam, Brian, Otiende, Verrah Akinyi, Chinedu Emmanuel Mbonu, Sari, Sakayo Toadoum, Lu, Yao, Stenetorp, Pontus

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