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There are 70686 results for: content related to: Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

  1. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964–1993

    American Journal of Medical Genetics

    Volume 50, Issue 4, 1 May 1994, Pages: 339–343, John M. Opitz, Victor B. Penchaszadeh, Mary C. Holt, LaVelle M. Spano and Vicki L. Smith

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320500407

  2. Smith-Lemli-Opitz Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 727–738, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch49

  3. Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 250–262, Małgorzata J.M. Nowaczyk and Mira B. Irons

    Article first published online : 11 OCT 2012, DOI: 10.1002/ajmg.c.31343

  4. Smith-Lemli-Opitz (RSH) syndrome bibliography

    American Journal of Medical Genetics

    Volume 28, Issue 3, November 1987, Pages: 745–750, Dr. John M. Opitz, Victor B. Penchaszadeh, Mary C. Holt and LaVelle M. Spano

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320280324

  5. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 68, Issue 3, 31 January 1997, Pages: 270–278, Angela E. Lin, Holly H. Ardinger, Robert H. Ardinger Jr., Christopher Cunniff and Richard I. Kelley

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970131)68:3<270::AID-AJMG5>3.0.CO;2-Q

  6. Smith-Lemli-Opitz Syndrome

    Standard Article

    Management of Genetic Syndromes

    Christopher Cunniff and Theresa A. Grebe

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs042

  7. Mutational spectrum of Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 263–284, Hans R. Waterham and Raoul C.M. Hennekam

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31346

  8. The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 242–249, John M. Opitz and Larissa V. Furtado

    Article first published online : 11 OCT 2012, DOI: 10.1002/ajmg.c.31341

  9. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects

    American Journal of Medical Genetics

    Volume 26, Issue 2, February 1987, Pages: 321–336, Dr. Anthony C. Casamassima, Peter Mamunes, Igor M. Gladstone Jr., Stuart Solomon, Charles Moncure, John M. Opitz and James F. Reynolds

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320260211

  10. You have free access to this content
    DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2057–2062, Małgorzata J.M. Nowaczyk, John S. Waye and James D. Douketis

    Article first published online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31413

  11. Neurological Involvement in the Smith-Lemli-Opitz Syndrome: Clinical and Neuropathological Findings

    Developmental Medicine & Child Neurology

    Volume 15, Issue 1, February 1973, Pages: 48–55, Carlos A. Garcia, Paul A. McGarry, Michel Voirol and Caroline Duncan

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1973.tb04865.x

  12. Recent insights into the Smith–Lemli–Opitz syndrome

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 383–391, H Yu and SB Patel

    Article first published online : 13 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00515.x

  13. Smith-Lemli-Opitz syndrome: a review, case report and dental implications

    Special Care in Dentistry

    Volume 23, Issue 1, January 2003, Pages: 22–27, Kathleen B. Muzzin and Lisa F. Harper

    Article first published online : 12 MAR 2008, DOI: 10.1111/j.1754-4505.2003.tb00285.x

  14. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 285–294, Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman and Robert D. Steiner

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31347

  15. You have free access to this content
    Growth charts for individuals with Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2707–2713, Ryan W.Y. Lee, John McGready, Sandra K. Conley, Nicole M. Yanjanin, Małgorzata J.M. Nowaczyk and Forbes D. Porter

    Article first published online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35376

  16. Smith-Lemli-Opitz Syndrome: Neuropathological and Ophthalmological Observations

    Developmental Medicine & Child Neurology

    Volume 19, Issue 1, February 1977, Pages: 57–62, Marcella Fierro, A. Julio Martinez, John W. Harbison and S. Hutson Hay

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1977.tb08021.x

  17. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 214–227, Patrycja A. Krakowiak, Ngozi A. Nwokoro, Christopher A. Wassif, Kevin P. Battaile, Małgorzata J.M. Nowaczyk, William E. Connor, Cheryl Maslen, Robert D. Steiner and Forbes D. Porter

    Article first published online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R

  18. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

    Prenatal Diagnosis

    Volume 18, Issue 7, July 1998, Pages: 651–658, G. S. Tint, Dianne Abuelo, Marianne Till, M. P. Cordier, Ashok K. Batta, Sarah Shefer, Akira Honda, Megumi Honda, Guorong Xu, Mira Irons, Ellen R. Elias and Gerald Salen

    Article first published online : 4 MAY 1999, DOI: 10.1002/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V

  19. Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 295–300, Andrea Diaz-Stransky and Elaine Tierney

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31342

  20. Smith-Lemli-Opitz syndrome: Thirty-year follow-up of “S” of “RSH” syndrome

    American Journal of Medical Genetics

    Volume 68, Issue 3, 31 January 1997, Pages: 260–262, Richard M. Pauli, Marc S. Williams, Kevin D. Josephson and G. S. Tint

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970131)68:3<260::AID-AJMG3>3.0.CO;2-Q