Rezultati - Maha S. Zaki

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  1. 1
    Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

    Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders od Sahar N. Saleem, Maha S. Zaki

    Izdano 2009
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  2. 2
    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy od Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya

    Izdano 2015
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  3. 3
    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation od Maha S. Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz

    Izdano 2017
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  4. 4
    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) od Ghada M. H. Abdel‐Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy Dixon‐Salazar, Inas S. Mostafa, Hanan H. Afifi, Joseph G. Gleeson

    Izdano 2012
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  5. 5
    Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

    Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome od Madeline A. Lancaster, Dipika Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson

    Izdano 2011
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  6. 6
    Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2

    Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2 od Sherry Fang, Peter T. Clayton, Divyani Garg, Sangeetha Yoganathan, Maha S. Zaki, Elin A. Helgadottir, Vala Palmadottir, Maude Landry, Sidney M. Gospe, Kshitij Mankad, Vincenzo Bonifati, Suvasini Sharma, Karin Tuschl

    Izdano 2025
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  7. 7
    The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter

    The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter od Karin Tuschl, Peter T. Clayton, SM Gospe, G Shamshad, Shahnaz Ibrahim, Pratibha Singhi, RT Ribeiro, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Vivien Price, Ron A. Wevers, PB Mills

    Izdano 2013
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  8. 8
    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive

    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive od Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Y. Issa, Hea‐Jin Jung, Esra Dikoglu, Laila Selim, Imam G. Mahmoud, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Isaac Marin‐Valencia, Joseph G. Gleeson

    Izdano 2016
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  9. 9
    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome od Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya

    Izdano 2013
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  10. 10
    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly od Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel‐Wolfrum, Mostafa I. Mostafa, Hölger Thiele, Uwe Wolfrum, Eveline Baumgart‐Vogt, Hanno J. Bolz

    Izdano 2015
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  11. 11
    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities od Farid Radmanesh, Ahmet Okay Çağlayan, Jennifer L. Silhavy, Cahide Yılmaz, Vincent Cantagrel, Tarek Omar, Başak Rosti, Hande Kaymakçalan, Stacey Gabriel, Mingfeng Li, Nenad Šestan, Kaya Bilgüvar, William B. Dobyns, Maha S. Zaki, Murat Günel, Joseph G. Gleeson

    Izdano 2013
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  12. 12
    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features od Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson

    Izdano 2017
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  13. 13
    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia od Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Izdano 2017
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  14. 14
    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features od Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra

    Izdano 2016
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  15. 15
    Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

    Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 od Nathalie Escande‐Beillard, Abigail Loh, Sahar N. Saleem, Kohei Kanata, Yui Hashimoto, Umut Altunoğlu, Artina Metoska, Joanes Grandjean, Fui Mee Ng, Oz Pomp, Nithya Baburajendran, Joyner Wong, Jeffrey Hill, Emmanuel Beillard, Patrick J. Cozzone, Maha S. Zaki, Hülya Kayserili, Hiroshi Hamada, Hidetaka Shiratori, Bruno Reversade

    Izdano 2020
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  16. 16
    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish od Mohamed S. Abdel‐Hamid, Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros Nogueira Rojas, Fernando Kok, Mohnish Suri, César Augusto Pinheiro Ferreira Alves, Henry Houlden, Reza Maroofian, Shunmoogum A. Patten

    Izdano 2025
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  17. 17
    Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

    Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families od Ramy M. Hanna, Sarah Marsh, D. Swistun, Lihadh Al‐Gazali, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Asma Al-Tawari, Lailá Bastaki, Hülya Kayserili, A Rajab, B. Boglárka, Ralf Dietrich, William B. Dobyns, C. L. Truwit, Shifteh Sattar, Nathaniel A. Chuang, Elliott H. Sherr, Joseph G. Gleeson

    Izdano 2011
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  18. 18
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria od Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Izdano 2010
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  19. 19
    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man od Karin Tuschl, Peter T. Clayton, Sídney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo Teixeira Ribeiro, Orlando Graziani Póvoas Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea L. Rideout, Kevin Gordon, Ron A. Wevers, W.K. Chong, Philippa B. Mills

    Izdano 2012
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  20. 20
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia od Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

    Izdano 2016
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