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There are 80936 results for: content related to: Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

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    A functional network module for Smith–Magenis syndrome

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 364–374, S Girirajan, HT Truong, CL Blanchard and SH Elsea

    Article first published online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01135.x

  2. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x

  3. Landmarks in genetics through philately: the tools used by dysmorphologists

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 105–108, AE Chudley

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00030.x

  4. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 99–105, H Schmidt, G Rudolph, M Hergersberg, K Schneider, S Moradi and T Meitinger*

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590206.x

  5. Chimera and other fertilization errors

    Clinical Genetics

    Volume 70, Issue 5, November 2006, Pages: 363–373, V Malan, M Vekemans and C Turleau

    Article first published online : 14 SEP 2006, DOI: 10.1111/j.1399-0004.2006.00689.x

  6. New insights in congenital bowing of the femora

    Clinical Genetics

    Volume 66, Issue 3, September 2004, Pages: 169–176, V Cormier-Daire, D Geneviève, A Munnich and M Le Merrer

    Article first published online : 20 AUG 2004, DOI: 10.1111/j.0009-9163.2004.00307.x

  7. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 71–76, André Mégarbané, Fady A. Haddad, Soha Haddad-Zebouni, Mitri Achram, Georg Eich, Martine Le Merrer and Andrea Superti-Furga

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560110.x

  8. Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

    Clinical Genetics

    Volume 63, Issue 6, June 2003, Pages: 490–509, FJ De Serres, I Blanco and E Fernández-Bustillo

    Article first published online : 3 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00078.x

  9. Interpupillary distance in a normal black population

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 182–191, EK Pivnick, ML Rivas, EA Tolley, SD Smith and GJ Presbury

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550306.x

  10. Partial DiGeorge syndrome in two patients with a 10p rearrangement

    Clinical Genetics

    Volume 55, Issue 4, April 1999, Pages: 269–276, Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven and Koen Devriendt

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550410.x

  11. A new classification system for primary lymphatic dysplasias based on phenotype

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 438–452, F Connell, G Brice, S Jeffery, V Keeley, P Mortimer and S Mansour

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01394.x

  12. 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history

    Clinical Genetics

    Volume 55, Issue 6, June 1999, Pages: 398–415, Victor A McKusick, Juergen Naggert, Patsy Nishina and David Valle

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550603.x

  13. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

    Clinical Genetics

    Volume 76, Issue 2, August 2009, Pages: 188–194, F Molinari, A Kaminska, G Fiermonte, N Boddaert, A Raas-Rothschild, P Plouin, L Palmieri, F Brunelle, F Palmieri, O Dulac, A Munnich and L Colleaux

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01236.x

  14. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

    Clinical Genetics

    Volume 79, Issue 3, March 2011, Pages: 225–235, D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz-Pannier, P Blanchet, H Dollfus, F Giuliano, V Bennouna-Greene, P Sarda, S Sigaudy, A Curie, MC Vincent, R Touraine and V des Portes

    Article first published online : 18 OCT 2010, DOI: 10.1111/j.1399-0004.2010.01551.x

  15. Identification of four novel mutations in five unrelated Korean families with Fabry disease

    Clinical Genetics

    Volume 58, Issue 3, September 2000, Pages: 228–233, J-K Lee, G-H Kim, J-S Kim, K-K Kim, M-C Lee and H-W Yoo

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580311.x

  16. The Ehlers–Danlos syndrome, a disorder with many faces

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 1–11, A De Paepe and F Malfait

    Article first published online : 15 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01858.x

  17. Birth defects before epigenesis

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 338–342, HA Tucker

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.2008.01020.x

  18. The molecular basis of variation in human color vision

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 369–377, SS Deeb

    Article first published online : 22 FEB 2005, DOI: 10.1111/j.1399-0004.2004.00343.x

  19. Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

    Clinical Genetics

    Volume 60, Issue 3, September 2001, Pages: 206–211, C Orellana, F Martínez, L Badía, JM Millán, MR Montero, J Andrés and F Prieto

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600306.x

  20. Genotype–phenotype correlation in colorectal polyposis

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 521–531, KF Newton, EKL Mallinson, J Bowen, F Lalloo, T Clancy, J Hill and DGR Evans

    Article first published online : 25 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01740.x