Sökresultat - John M. Opitz

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  1. 1
    The XY Gonadal Agenesis Syndrome

    The XY Gonadal Agenesis Syndrome av Gloria E. Sarto, John M. Opitz

    Publicerad 1973
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  2. 2
    Cranial defects in the Goldenhar syndrome

    Cranial defects in the Goldenhar syndrome av Golder N. Wilson, Jürgen Herrmann, John M. Opitz

    Publicerad 1983
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  3. 3
    Resynthesizing Evolutionary and Developmental Biology

    Resynthesizing Evolutionary and Developmental Biology av Scott F. Gilbert, John M. Opitz, Rudolf A. Raff

    Publicerad 1996
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  4. 4
    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome av Giovanni Neri, R. Marini, Marco Cappa, P. Borrelli, John M. Opitz

    Publicerad 2013
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  5. 5
    An anthropometric study of 38 individuals with Prader‐Labhart‐Willi syndrome

    An anthropometric study of 38 individuals with Prader‐Labhart‐Willi syndrome av Merlin G. Butler, F. John Meaney, John M. Opitz, James F. Reynolds

    Publicerad 1987
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  6. 6
    The phenotypic and cytogenetic spectrum of partial trisomy 9

    The phenotypic and cytogenetic spectrum of partial trisomy 9 av Golder N. Wilson, Anita Raj, Diane Baker, John M. Opitz, James F. Reynolds

    Publicerad 1985
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  7. 7
    At‐risk Persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan

    At‐risk Persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan av Dorene S. Markel, Anne B. Young, John B. Penney, John M. Opitz, James F. Reynolds

    Publicerad 1987
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  8. 8
    Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome

    Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome av Merlin G. Butler, F. John Meaney, Catherine G. Palmer, John M. Opitz, James F. Reynolds

    Publicerad 1986
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  9. 9
    Cytological Mapping of Human X-Linked Genes by Use of Somatic Cell Hybrids Involving an X-Autosome Translocation

    Cytological Mapping of Human X-Linked Genes by Use of Somatic Cell Hybrids Involving an X-Autosome Translocation av Karl‐Heinz Grzeschik, P. W. Allderdice, A. M. GRZESCHIK, John M. Opitz, O. J. Miller, M. Siniscalco

    Publicerad 1972
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  10. 10
    Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

    Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome av J. Herrmann, Philip D. Pallister, Enid F. Gilbert, Chirane Viseskul, EdwardT Bersu, James C. Pettersen, JohnM. Opitz

    Publicerad 1976
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  11. 11
    Do some patients with seckel syndrome have hematological problems and/or chromosome breakage?

    Do some patients with seckel syndrome have hematological problems and/or chromosome breakage? av Merlin G. Butler, Bryan D. Hall, Ronald N. Maclean, Carmen B. Lozzio, John M. Opitz, James F. Reynolds

    Publicerad 1987
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  12. 12
    A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

    A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and oth... av N. Freire‐Maia, V A Fortes, L C Pereira, John M. Opitz, F A Marcalle, Iglenir João Cavalli

    Publicerad 1975
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  13. 13
    Elements of morphology: General terms for congenital anomalies

    Elements of morphology: General terms for congenital anomalies av Raoul C. M. Hennekam, Leslie G. Biesecker, Judith Allanson, Judith G. Hall, John M. Opitz, I. Karen Temple, John C. Carey

    Publicerad 2013
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  14. 14
    The cardiofaciocutaneous syndrome

    The cardiofaciocutaneous syndrome av Amy E. Roberts, Judith Allanson, Suzanne K. Jadico, Maria Inês Kavamura, Jacqueline A. Noonan, John M. Opitz, Terry‐Lynn Young, Giovanni Neri

    Publicerad 2006
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  15. 15
    Mutations in mitochondrial histidyl tRNA synthetase <i>HARS2</i> cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

    Mutations in mitochondrial histidyl tRNA synthetase <i>HARS2</i> cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome av Sarah B. Pierce, Karen M. Chisholm, Eric D. Lynch, Ming K. Lee, Tom Walsh, John M. Opitz, Weiqing Li, Rachel E. Klevit, Mary‐Claire King

    Publicerad 2011
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  16. 16
    An Xq22.3 duplication detected by comparative genomic hybridization microarray (<i>Array‐CGH</i>) defines a new locus (<i>FGS5</i>) for FG syndrome

    An Xq22.3 duplication detected by comparative genomic hybridization microarray (<i>Array‐CGH</i>) defines a new locus (<i>FGS5</i>) for FG syndrome av Fernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Victorino Krepischi, Fernando Kok, Jeroen Knijnenburg, Guy Froyen, Angela Maria Vianna‐Morgante, John M. Opitz, Maria Rita Passos‐Bueno

    Publicerad 2005
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  17. 17
    Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

    Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome av Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy‐Lahad, Rachel E. Klevit, Mary‐Claire King

    Publicerad 2010
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  18. 18
    A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload

    A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload av Kathryn J. Swoboda, Rebecca L. Margraf, John C. Carey, Holly Zhou, Tara Newcomb, Emily Coonrod, Jacob Durtschi, Kalyan C. Mallempati, Attila Kumánovics, Ben E. Katz, Karl V. Voelkerding, John M. Opitz

    Publicerad 2013
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  19. 19
    Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

    Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 av Nandita Quaderi, Susann Schweiger, Karin Gaudenz, Brunella Franco, Elena I. Rugarli, Wolfgang Berger, George Feldman, Manuela Volta, Grazia Andolfi, S Gilgenkrantz, Robert W. Marion, Raoul C. M. Hennekam, John M. Opitz, Maximilian Muenke, Hilger H. Ropers, Andrea Ballabio

    Publicerad 1997
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  20. 20
    Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

    Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability av Krithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, Chin Fen Teo, Melanie May, Sneha Patel, Brent Weatherly, Cindy Skinner, John M. Opitz, John C. Carey, David Viskochil, Jozef Gécz, Marie Shaw, Yunhui Peng, Emil Alexov, Tao Wang, Charles E. Schwartz, Lance Wells

    Publicerad 2017
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