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There are 22234 results for: content related to: ‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing

  1. You have free access to this content
    Exome sequencing in a family segregating for celiac disease

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 138–147, AM Szperl, I Ricaño-Ponce, JK Li, P Deelen, A Kanterakis, V Plagnol, F van Dijk, HJ Westra, G Trynka, CJ Mulder, M Swertz, C Wijmenga and H Ch Zheng

    Article first published online : 21 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01714.x

  2. You have free access to this content
    Exome sequencing in Parkinson's disease

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 104–109, JM Bras and AB Singleton

    Article first published online : 16 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01722.x

  3. You have free access to this content
    Exome sequencing and the genetics of intellectual disability

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 117–126, S Topper, C Ober and S Das

    Article first published online : 15 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01720.x

  4. You have free access to this content
    Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 110–116, P Ostergaard, MA Simpson and S Jeffery

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01706.x

  5. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 135–144, Y Tsurusaki, T Kosho, K Hatasaki, Y Narumi, K Wakui, Y Fukushima, H Doi, H Saitsu, N Miyake and N Matsumoto

    Article first published online : 1 MAY 2012, DOI: 10.1111/j.1399-0004.2012.01885.x

  6. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 532–540, V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari and A Kumar

    Article first published online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01686.x

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    Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 161–166, Y Tsurusaki, N Okamoto, Y Suzuki, H Doi, H Saitsu, N Miyake and N Matsumoto

    Article first published online : 21 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01721.x

  8. Exome sequencing: expanding the genetic testing toolbox

    Clinical Genetics

    Volume 78, Issue 2, August 2010, Pages: 132–134, CE Kobelka

    Article first published online : 6 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01452_1.x

  9. De novo paradigm: the ultimate answer to the paradox in mental retardation?

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 427–428, K Huang

    Article first published online : 31 JAN 2011, DOI: 10.1111/j.1399-0004.2011.01630.x

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    Exome sequencing expedites disease gene discovery

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 133–134, K Huang

    Article first published online : 24 FEB 2011, DOI: 10.1111/j.1399-0004.2011.01645.x

  11. Celiac disease: moving from genetic associations to causal variants

    Clinical Genetics

    Volume 80, Issue 3, September 2011, Pages: 203–313, B Hrdlickova, H-J Westra, L Franke and C Wijmenga

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01707.x

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    Strategies for exome and genome sequence data analysis in disease-gene discovery projects

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 127–132, PN Robinson, P Krawitz and S Mundlos

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01713.x

  13. Exome sequencing: locating causative genes in rare disorders

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 32–33, KA Pussegoda

    Article first published online : 7 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01414_1.x

  14. Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 132–133, SS Sanders

    Article first published online : 19 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01585.x

  15. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 38–46, C Mongin, F Coulet, JH Lefevre, C Colas, M Svrcek, M Eyries, Y Lahely, J-F Fléjou, F Soubrier and Y Parc

    Article first published online : 4 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01676.x

  16. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 48–55, S Khan, S Basit, F K Zimri, N Ali, G Ali, M Ansar and W Ahmad

    Article first published online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01698.x

  17. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 563–570, SHE Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova and M Al-Owain

    Article first published online : 18 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01690.x

  18. 3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 187–192, C Dupont, F Guimiot, L Perrin, I Marey, D Smiljkovski, D Le Tessier, C Lebugle, C Baumann, P Bourdoncle, A-C Tabet, A Aboura, B Benzacken and J-M Dupont

    Article first published online : 3 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01697.x

  19. 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

  20. 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