Kết quả tìm kiếm - Maroofian, Reza

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity Bằng Maroofian, Reza, Behnam, Mahdiyeh, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Salehi, Mansour, Houlden, Henry

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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities Bằng Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry

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A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family Bằng Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Kalantar, Seyed M., Jaafarinia, Mojtaba, Chilton, John, Dehghani, Mohammadreza

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Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child Bằng Maroofian, Reza, Schuele, Isabel, Najafi, Maryam, Bakey, Zeineb, Rad, Abolfazl, Antony, Dinu, Habibi, Haleh, Schmidts, Miriam

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Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS Bằng Magrinelli, Francesca, Moualek, Dalila, Tazir, Meriem, Pacha, Lamia Ali, Verghese, Alice, Bhatia, Kailash P., Maroofian, Reza, Houlden, Henry

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Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy Bằng Dilaver, Nafi, Mazaheri, Neda, Maroofian, Reza, Zeighami, Jawaher, Seifi, Tahere, Zamani, Mina, Sedaghat, Alireza, Shariati, Gholam Reza, Galehdari, Hamid

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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report Bằng Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas

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Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family Bằng Vona, Barbara, Maroofian, Reza, Mendiratta, Geetu, Croken, Matthew, Peng, Siwu, Ye, Xiaoqian, Rezazadeh, Jamileh, Bahena, Paulina, Lekszas, Caroline, Haaf, Thomas, Edelmann, Lisa, Shi, Lisong

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Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function Bằng Scala, Marcello, Efthymiou, Stephanie, Sultan, Tipu, De Waele, Jolien, Panciroli, Marta, Salpietro, Vincenzo, Maroofian, Reza, Striano, Pasquale, Van Petegem, Filip, Houlden, Henry, Bosmans, Frank

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The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family Bằng Hofrichter, Michaela A. H., Mojarad, Majid, Doll, Julia, Grimm, Clemens, Eslahi, Atiye, Hosseini, Neda Sadat, Rajati, Mohsen, Müller, Tobias, Dittrich, Marcus, Maroofian, Reza, Haaf, Thomas, Vona, Barbara

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Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardi... Bằng Jones, Edward G., Mazaheri, Neda, Maroofian, Reza, Zamani, Mina, Seifi, Tahereh, Sedaghat, Alireza, Shariati, Gholamreza, Jamshidi, Yalda, Allen, Hugh D., Wehrens, Xander H. T., Galehdari, Hamid, Landstrom, Andrew P.

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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report Bằng DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza

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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia Bằng Breza, Marianthi, Bourinaris, Thomas, Efthymiou, Stephanie, Maroofian, Reza, Athanasiou-Fragkouli, Alkyoni, Tzartos, John, Velonakis, Georgios, Karavasilis, Efstratios, Angelopoulou, Georgia, Kasselimis, Dimitrios, Potagas, Constantin, Stefanis, Leonidas, Karadima, Georgia, Koutsis, Georgios, Houlden, Henry

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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations Bằng Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.

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Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation Bằng Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bönnemann, Carsten G., Yis, Uluc, Wirth, Brunhilde

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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy Bằng Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry

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Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course Bằng Maroofian, Reza, Gubas, Andrea, Kaiyrzhanov, Rauan, Scala, Marcello, Hundallah, Khalid, Severino, Mariasavina, Abdel-Hamid, Mohamed S, Rosenfeld, Jill A, Ebrahimi-Fakhari, Darius, Ali, Zahir, Rahim, Fazal, Houlden, Henry, Tooze, Sharon A, Alsaleh, Norah S, Zaki, Maha S

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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features Bằng Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 Bằng Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder Bằng Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW

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