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Search Results - Jedele, Kerry
Search Results - Jedele, Kerry
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The Overlapping Spectrum of Rett and Angelman Syndromes: A Clinical Review
by
Jedele, Kerry Baldwin, MD
Published in
Seminars in pediatric neurology
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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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VELO-CARDIO-FACIAL SYNDROME ASSOCIATED WITH VENTRICULAR SEPTAL-DEFECT, PULMONARY ATRESIA, AND HYPOPLASTIC PULMONARY-ARTERIES
by
JEDELE, KB
,
MICHELS, VV
,
PUGA, FJ
,
FELDT, RH
Published in
Pediatrics (Evanston)
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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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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
Published in
Journal of medical genetics
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Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)
by
Holinski-Feder, Elke
,
Reyniers, Edwin
,
Uhrig, Sabine
,
Golla, Astrid
,
Wauters, Jan
,
Kroisel, Peter
,
Bossuyt, Paul
,
Rost, Imma
,
Jedele, Kerry
,
Zierler, Hannelore
,
Schwab, Sieglinde
,
Wildenauer, Dieter
,
Speicher, Michael R.
,
Willems, Patrick J.
,
Meitinger, Thomas
,
Kooy, R. Frank
Published in
American journal of human genetics
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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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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
Published in
American journal of medical genetics
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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
Published in
American journal of medical genetics
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