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There are 2130592 results for: content related to: Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas–Papas syndrome

  1. You have free access to this content
    Hematological characteristics and effective screening for compound heterozygosity for Hb constant spring and deletional α+-thalassemia

    American Journal of Hematology

    Volume 86, Issue 7, July 2011, Pages: 615–617, Noppacharn Uaprasert, Ponlapat Rojnuckarin, Rung Settapiboon, Supaporn Amornsiriwat and Pranee Sutcharitchan

    Version of Record online : 20 APR 2011, DOI: 10.1002/ajh.22033

  2. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 392–393, J Hogue, C Lee, A Jelin, MN Strecker, VA Cox and AM Slavotinek

    Version of Record online : 28 DEC 2012, DOI: 10.1111/cge.12073

  3. You have free access to this content
    Homozygous truncation of SIX6 causes complex microphthalmia in humans

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 198–199, M A Aldahmesh, A O Khan, H Hijazi and F S Alkuraya

    Version of Record online : 20 NOV 2012, DOI: 10.1111/cge.12046

  4. EDA mutation by exome sequencing in non-syndromic X-linked oligodontia

    Clinical Genetics

    Volume 92, Issue 2, August 2017, Pages: 227–229, L. Martins, R. A. Machado, D. S. Araujo, P. A. Giovani, P. D. Rebouças, L. P. Rodrigues, L. S. Mofatto, M. M. Ribeiro, L. L. Coutinho, R. M. Puppin-Rontani, R. D. Coletta, F. H. Nociti Jr and K. R. Kantovitz

    Version of Record online : 19 MAR 2017, DOI: 10.1111/cge.12961

  5. Golga5 is dispensable for mouse embryonic development and postnatal survival

    genesis

    Volume 55, Issue 7, July 2017, Lynessa J. McGee, Alex L. Jiang and Yu Lan

    Version of Record online : 2 JUN 2017, DOI: 10.1002/dvg.23039

  6. You have full text access to this OnlineOpen article
    A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 556–557, Y. Wang, K. Koh, Y. Ichinose, M. Yasumura, T. Ohtsuka and Y. Takiyama

    Version of Record online : 16 SEP 2016, DOI: 10.1111/cge.12851

  7. Clinical significance of prothrombin G20210A mutation in homozygous patients

    American Journal of Hematology

    Volume 92, Issue 10, October 2017, Pages: E618–E620, Amit Shemesh, Ron Hoffman, Yona Nadir, Anat Keren-Politansky, Manuel Monreal, Benjamin Brenner and Inna Tzoran

    Version of Record online : 17 AUG 2017, DOI: 10.1002/ajh.24859

  8. Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

    American Journal of Hematology

    Volume 92, Issue 6, June 2017, Pages: E108–E110, Alicia Rivera, David H. Vandorpe, Boris E. Shmukler, Denis R. Gallagher, Christopher C. Fikry, Frans A. Kuypers, Carlo Brugnara, L. Michael Snyder and Seth L. Alper

    Version of Record online : 29 APR 2017, DOI: 10.1002/ajh.24716

  9. Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 93–95, L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng and X.-H. Wan

    Version of Record online : 1 APR 2014, DOI: 10.1111/cge.12341

  10. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 395–397, S. Miyatake, H. Tada, S. Moriya, J. Takanashi, Y. Hirano, M. Hayashi, Y. Oya, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12455

  11. Identification of high oxygen affinity hemoglobin (Hb Andrew-Minneapolis) in an Indian family

    International Journal of Laboratory Hematology

    Volume 39, Issue 2, April 2017, Pages: e51–e54, P. Mehta, D. Upadhye, P. Hariharan, K. Italia, P. Sawant, A. Nadkarni, G. Subramanian and M. B. Mukherjee

    Version of Record online : 1 JAN 2017, DOI: 10.1111/ijlh.12608

  12. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 496–498, E. Tham, G. Nishimura, S. Geiberger, E. Horemuzova, D. Nilsson, A. Lindstrand, A. Hammarsjö, M. Armenio, O. Mäkitie, B. Zabel, A. Nordgren, M. Nordenskjöld and G. Grigelioniene

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12466

  13. Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 598–600, M. He, B.-S. Tang, N. Li, X. Mao, J. Li, J.-G. Zhang, J.-J. Xiao, J. Wang, H. Jiang, L. Shen, J.-F. Guo, K. Xia and J.-L. Wang

    Version of Record online : 13 MAR 2014, DOI: 10.1111/cge.12338

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    Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1

    Experimental Dermatology

    Volume 24, Issue 3, March 2015, Pages: 220–222, Leila Youssefian, Hassan Vahidnezhad, Maryam Daneshpazhooh, Sina Abdollahzadeh, Hamidreza Talari, Alireza Khoshnevisan, Cheyda Chams-Davatchi, Roozbeh Mobasher, Qiaoli Li, Jouni Uitto, Shahin Akhondzadeh and Mina Tabrizi

    Version of Record online : 26 FEB 2015, DOI: 10.1111/exd.12620

  15. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

    Clinical Genetics

    Volume 91, Issue 6, June 2017, Pages: 932–933, S. Takahashi, M. Matsufuji, C. Yonee, H. Tsuru, N. Sano and H. Oguni

    Version of Record online : 26 JAN 2017, DOI: 10.1111/cge.12902

  16. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 293–295, C. Beneteau, G. Thierry, S. Blesson, C. Le Vaillant, V. Picard, M.C. Béné, M. Eveillard and C. Le Caignec

    Version of Record online : 14 APR 2013, DOI: 10.1111/cge.12147

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    Two cases of homozygous α0-thalassemia diagnosed prenatally in pregnancies at risk for β-thalassemia in China

    Ultrasound in Obstetrics & Gynecology

    Volume 29, Issue 4, April 2007, Pages: 474–475, C. Liao, X.-M. Xie and D.-Z. Li

    Version of Record online : 8 FEB 2007, DOI: 10.1002/uog.3929

  18. Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan)

    International Journal of Laboratory Hematology

    Volume 36, Issue 4, August 2014, Pages: e66–e68, N. S. Karadsheh, T. Gelbart and R. G. Naffa

    Version of Record online : 12 DEC 2013, DOI: 10.1111/ijlh.12174

  19. Hermansky–Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 96–98, A. O. Khan, M. Tamimi, S. Lenzner and H. J. Bolz

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12715

  20. Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR–ABL-negative myeloproliferative neoplasms

    International Journal of Laboratory Hematology

    Volume 35, Issue 1, February 2013, Pages: e9–e12, A. P. Trifa, A. Cucuianu, R. A. Popp, R. M. Costache, C. A. Coadă, A. D. Sarca, L. G. Urian, D. Dima, L. Petrov, M. F. Farcasˏ, M. S. Militaru and I. V. Pop

    Version of Record online : 29 OCT 2012, DOI: 10.1111/ijlh.12017