檢索結果 - L.I. Al-Gazali

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  1. 1
    The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

    The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. 由 L.I. Al-Gazali, Adekunle Dawodu, K Sabarinathan, Mani Varghese

    出版 1995
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  2. 2
    Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

    Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? 由 Tamás Révész, Sophie Fletcher, L.I. Al-Gazali, P. DeBuse

    出版 1992
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  3. 3
    Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

    Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. 由 L I al-Gazali, R F Mueller, A. Caine, Anthony Antoniou, Anthony J. McCartney, M Fitchett, N R Dennis

    出版 1990
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  4. 4
    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome 由 Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, L.I. Al-Gazali, Fowzan S. Alkuraya

    出版 2009
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  5. 5
    Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

    Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes 由 Nathalie Dagoneau, Samuel Bellais, Patricia Blanchet, P. Sardá, L.I. Al-Gazali, Maja Di Rocco, Céline Huber, Fatima Djouadi, Carine Le Goff, Arnold Münnich, Valérie Cormier‐Daire

    出版 2007
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  6. 6
    Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome

    Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome 由 Turgut Tükel, Dražen Šošić, L.I. Al-Gazali, Mónica Erazo, Jose J. Casasnovas, Hector L. Franco, James A. Richardson, Eric N. Olson, Carmen L. Cadilla, Robert J. Desnick

    出版 2010
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  7. 7
    Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

    Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development 由 Michael A. Simpson, Ray C. J. Hsu, Lindsay S. Keir, Jianjun Hao, G. Sivapalan, Linda M. Ernst, E H Zackai, L.I. Al-Gazali, Georg Hülskamp, Helen Kingston, Trine Prescott, Andra Ion, M Patton, Victoria Murday, Anne George, Andrew H. Crosby

    出版 2007
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  8. 8
    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia 由 Jennifer E. Below, Dawn Earl, Kathryn M. Shively, Margaret J. McMillin, Joshua D. Smith, Emily H. Turner, Mark J. Stephan, L.I. Al-Gazali, Jozef Hertecant, David Chitayat, Sheila Unger, Daniel H. Cohn, Deborah Krakow, James M. Swanson, Elaine M. Faustman, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    出版 2012
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  9. 9
    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome 由 Nathalie Dagoneau, Déborah Scheffer, Céline Huber, L.I. Al-Gazali, Maja Di Rocco, Anne Godard, Jéléna Martinovic, Annick Raas‐Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean‐Luc Taupin, Jean-François Moreau, Andrea Superti‐Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    出版 2004
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  10. 10
    Identification of CANT1 Mutations in Desbuquois Dysplasia

    Identification of CANT1 Mutations in Desbuquois Dysplasia 由 Céline Huber, Bénédicte Oulès, Marta Bértoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, L.I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti‐Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Münnich, Valérie Cormier‐Daire

    出版 2009
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  11. 11
    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux 由 Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, L.I. Al-Gazali, Sarina G. Kant, Trevor Cole, Jenny Morton, Valérie Cormier‐Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert Mortier, Jules G. Leroy, Bernhard Zabel, Chong Ae Kim, Yanick J. Crow, Nancy Braverman, Focco van den Akker, Matthew L. Warman

    出版 2004
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