ADAMTS18 -related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome von Khan, Arif O

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Fundus autofluorescence imaging in hereditary retinal diseases von Pichi, Francesco, Abboud, Emad B., Ghazi, Nicola G., Khan, Arif O.

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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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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome von Patel, Nisha, Khan, Arif O., Mansour, Ahmad, Mohamed, Jawahir Y., Al-Assiri, Abdullah, Haddad, Randa, Jia, Xiaofei, Xiong, Yong, Mégarbané, André, Traboulsi, Elias I., Alkuraya, Fowzan S.

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Anterior segment dysgenesis: Insights into the genetics and pathogenesis von Kaushik, Sushmita, Dubey, Suneeta, Choudhary, Sandeep, Ratna, Ria, Pandav, Surinder, Khan, Arif

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish von Van De Weghe, Julie C., Rusterholz, Tamara D.S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Dobyns, William B., Alkuraya, Fowzan S., Roepman, Ronald, Bachmann-Gagescu, Ruxandra, Doherty, Dan

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Recognizing the KCNV2 -Related Retinal Phenotype von Khan, Arif O., MD

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts von Jiao, Xiaodong, Khan, Shahid Y, Irum, Bushra, Khan, Arif O, Wang, Qiwei, Kabir, Firoz, Khan, Asma A, Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J Fielding, Riazuddin, S Amer

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Mutations in LRPAP1 Are Associated with Severe Myopia in Humans von Aldahmesh, Mohammed A., Khan, Arif O., Alkuraya, Hisham, Adly, Nouran, Anazi, Shamsa, Al-Saleh, Ahmed A., Mohamed, Jawahir Y., Hijazi, Hadia, Prabakaran, Sarita, Tacke, Marlene, Al-Khrashi, Abdullah, Hashem, Mais, Reinheckel, Thomas, Assiri, Abdullah, Alkuraya, Fowzan S.

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Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy von Aypek, Hande, Krisp, Christoph, Lu, Shun, Liu, Shuya, Kylies, Dominik, Kretz, Oliver, Wu, Guochao, Moritz, Manuela, Amann, Kerstin, Benz, Kerstin, Tong, Ping, Hu, Zheng-Mao, Alsulaiman, Sulaiman M, Khan, Arif O, Grohmann, Maik, Wagner, Timo, Müller-Deile, Janina, Schlüter, Hartmut, Puelles, Victor G, Bergmann, Carsten, Huber, Tobias B, Grahammer, Florian

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CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness von Khan, Arif O., MD

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations von Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts von Irum, Bushra, Khan, Shahid Y, Ali, Muhammad, Kaul, Haiba, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Nadeem, Raheela, Khan, Arif O, Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A, Khan, Shaheen N, Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O, Riazuddin, S Amer

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A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula von Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.

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Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome von Khan, Arif O., MD, Bifari, Inam N., MD, Bolz, Hanno J., MD

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 von Khan, Shahid Y., Vasanth, Shivakumar, Kabir, Firoz, Gottsch, John D., Khan, Arif O., Chaerkady, Raghothama, Lee, Mei-Chong W., Leitch, Carmen C., Ma, Zhiwei, Laux, Julie, Villasmil, Rafael, Khan, Shaheen N., Riazuddin, Sheikh, Akram, Javed, Cole, Robert N., Talbot, C. Conover, Pourmand, Nader, Zaghloul, Norann A., Hejtmancik, J. Fielding, Riazuddin, S. Amer

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Bilateral simultaneous orbital hemorrhage and compartment syndrome as the presenting sign of acquired hemophilia A in an 11-year-old girl von Shatnawi, Raed, Shweiki, Samar A., Khan, Arif O.

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Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy von Khan, Arif O., Basamh, Omar, Alkatan, Hind M.

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Two-Year Survival of Ahmed Valve Implantation in the First 2 Years of Life with and without Intraoperative Mitomycin-C von Al-Mobarak, Faisal, MD, Khan, Arif O., MD

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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation von Khan, Arif O, Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten, Bolz, Hanno J

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