Bilaketaren emaitzak - Hanan Hamamy

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  1. 1
    Consanguineous marriages

    Consanguineous marriages nork Hanan Hamamy

    Argitaratua 2011
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  2. 2
    Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring

    Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring nork Hanan Hamamy, Nisreen A Alwan

    Argitaratua 2015
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  3. 3
    Epidemiological profile of common haemoglobinopathies in Arab countries

    Epidemiological profile of common haemoglobinopathies in Arab countries nork Hanan Hamamy, Nasir Al‐Allawi

    Argitaratua 2012
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  4. 4
    Consanguinity and Dysmorphology in Arabs

    Consanguinity and Dysmorphology in Arabs nork Lihadh Al‐Gazali, Hanan Hamamy

    Argitaratua 2014
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  5. 5
    THE CHANGING PROFILE OF CONSANGUINITY RATES IN BAHRAIN, 1990–2009

    THE CHANGING PROFILE OF CONSANGUINITY RATES IN BAHRAIN, 1990–2009 nork Shaikha Al-Arrayed, Hanan Hamamy

    Argitaratua 2011
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  6. 6
    Genetic disorders in the Arab world

    Genetic disorders in the Arab world nork Lihadh Al‐Gazali, Hanan Hamamy, Shaikha Al-Arrayad

    Argitaratua 2006
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  7. 7
    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

    A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly nork Periklis Makrythanasis, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis

    Argitaratua 2014
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  8. 8
    Consanguinity and reproductive health among Arabs

    Consanguinity and reproductive health among Arabs nork Ghazi Omar Tadmouri, Pratibha Nair, Tasneem Obeid, Mahmoud Taleb Al Ali, Najib Al Khaja, Hanan Hamamy

    Argitaratua 2009
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  9. 9
    Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

    Rare single gene disorders: estimating baseline prevalence and outcomes worldwide nork Hannah Blencowe, Sowmiya Moorthie, Mary Petrou, Hanan Hamamy, Sue Povey, A.H. Bittles, Stephen Gibbons, Matthew Darlison, Bernadette Modell

    Argitaratua 2018
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  10. 10
    Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

    Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling nork Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian D. O’Connor, Barry Merriman, Stanley F. Nelson, Simon M. Cool, Osama H. Ababneh, Azmy M. Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade

    Argitaratua 2010
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  11. 11
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia nork 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

    Argitaratua 2016
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  12. 12
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number nork Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed S. Al‐Dosari, Anas M. Alazami, Mohammed Al‐Owain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh

    Argitaratua 2014
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  13. 13
    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome nork Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik

    Argitaratua 2010
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  14. 14
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy nork Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Argitaratua 2016
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  15. 15
    INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

    INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex nork Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al‐Rawashdeh, Osama H. Ababneh, Mohammad El-Khateeb, Nathalie Escande‐Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

    Argitaratua 2022
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  16. 16
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly nork Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    Argitaratua 2018
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  17. 17
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families nork Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Argitaratua 2014
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  18. 18
    Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

    Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders nork Heather Fairfield, Anuj Srivastava, Guruprasad Ananda, Rangjiao Liu, Martin Kircher, Anuradha Lakshminarayana, Belinda S. Harris, Son Yong Karst, Louise A. Dionne, Coleen Kane, Michelle Curtain, Melissa L. Berry, Patricia F. Ward‐Bailey, Ian Greenstein, Candice Byers, Anne Czechanski, Jocelyn Sharp, Kristina Palmer, Polyxeni Gudis, Whitney Martin, Abigail L. D. Tadenev, Laurent Bogdanik, C. Herbert Pratt, Bo Chang, David G. Schroeder, Gregory A. Cox, Paul F. Cliften, Jeffrey Milbrandt, Stephen A. Murray, Robert W. Burgess, David E. Bergstrom, Leah Rae Donahue, Hanan Hamamy, Amira Masri, Federico Santoni, Periklis Makrythanasis, Stylianos E. Antonarakis, Jay Shendure, Laura G. Reinholdt

    Argitaratua 2015
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  19. 19
    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report nork Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia A. Temtamy, G. Cara Romeo, Leo P. ten Kate, Robin L. Bennett, Alison Shaw, André Mégarbané, Cornelia M. van Duijn, Heli Bathija, Siv Fokstuen, Eric Engel, Joël Zlotogora, Emmanouil T. Dermitzakis, Armand Bottani, Sophie Dahoun, Michael A. Morris, Steve Arsenault, Mona Aglan, Mubasshir Ajaz, Ayad Alkalamchi, Dhekra Alnaqeb, Mohamed K. Alwasiyah, Nawfal Anwer, Rawan I. Awwad, Melissa Bonnefin, Michael Corry, Lorraine Gwanmesia, Gulshan Karbani, Maryam Mostafavi, Tommaso Pippucci, Emmanuelle Ranza-Boscardin, Bruno Reversade, Saghira Malik Sharif, Marieke Teeuw, A.H. Bittles

    Argitaratua 2011
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  20. 20
    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder nork D.L. Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad‐Sadegh Fallah, Janneke Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T. Brüggenwirth, Leah R. Fleming, John Condie, Rafał Płoski, Agnieszka Pollak, Jacek Pilch, Nina Demina, А. Л. Чухрова, Vasilina S. Sergeeva, Hanka Venselaar, Amira Masri, Hanan Hamamy, Federico Santoni, Katrin Linda, Zubair M. Ahmed, Nael Nadif Kasri, Arjan P.M. de Brouwer, Anke K. Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Ghayda Mirzaa, А. В. Лавров, Stylianos E. Antonarakis, Mohammad Ali Faghihi, Hans van Bokhoven

    Argitaratua 2021
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