Search Results - Jedele, Kerry B

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  1. 1
    Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course

    Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course by Holinski-Feder, Elke, Weiss, Michael, Brandau, Oliver, Jedele, Kerry B, Nore, Beston, Backesjo, C. Magnus, Vihinen, Mauno, Hubbard, Stevan R, Belohradsky, Bernd H, Smith, C.I. Edvard, Meindl, Alfons

    Published in Pediatrics (Evanston)
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  2. 2
    Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries

    Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries by Jedele, K B, Michels, V V, Puga, F J, Feldt, R H

    Published in Pediatrics (Evanston)
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  3. 3
    A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

    A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgro... by Jaksch, M, Hofmann, S, Kleinle, S, Liechti-Gallati, S, Pongratz, D E, Müller-Höcker, J, Jedele, K B, Meitinger, T, Gerbitz, K D

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  4. 4
    Large Intergenerational Variation in Age of Onset in Two Young Patients With Huntington's Disease Presenting as Dyskinesia

    Large Intergenerational Variation in Age of Onset in Two Young Patients With Huntington's Disease Presenting as Dyskinesia by Holinski-Feder, Elke, Jedele, Kerry Baldwin, Hortnagel, Konstanze, Albert, Angelika, Meindl, Alfons, Trenkwalder, Claudia

    Published in Pediatrics (Evanston)
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  5. 5
    Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues

    Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues by Jedele, Kerry Baldwin, Wahl, Dagmar, Chahrokh-Zadeh, Soheyla, Wirtz, Antje, Murken, Jan, Holinski-Feder, Elke

    Published in Clinical genetics
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  6. 6
    Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region

    Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region by Holinski-Feder, Elke, Chahrockh-Zadeh, Soheyla, Rittinger, Olaf, Jedele, Kerry Baldwin, Gasteiger, Maria, Lenski, Claus, Murken, Jan, Golla, Astrid

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  7. 7
    MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation

    MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation by Golla, Astrid, Rost, Imma, Jedele, Kerry Baldwin, Albert, Angelika, Murken, Jan, Holinski-Feder, Elke

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