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10-Year outcome of childhood epilepsy in well-functioning children and adolescents
10-Year outcome of childhood epilepsy in well-functioning children and adolescents
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10-Year outcome of childhood epilepsy in well-functioning children and adolescents

Jonsson, Pysse ; Eeg-Olofsson, Orvar

European journal of paediatric neurology, 2011-07, Vol.15 (4), p.331-337 [Periódico revisado por pares]

England: Elsevier Ltd

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2
14q(22) deletion in a familial case of anophthalmia with polydactyly
14q(22) deletion in a familial case of anophthalmia with polydactyly
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14q(22) deletion in a familial case of anophthalmia with polydactyly

Ahmad, M.E. ; Dada, Rima ; Dada, Tanuj ; Kucheria, Kiran

American journal of medical genetics, 2003-07, Vol.120A (1), p.117-122 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH
15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH
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15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH

Koochek, M ; Harvard, C ; Hildebrand, MJ ; Van Allen, M ; Wingert, H ; Mickelson, E ; Holden, JJA ; Rajcan-Separovic, E ; Lewis, MES

Clinical genetics, 2006-02, Vol.69 (2), p.124-134 [Periódico revisado por pares]

Oxford, UK; Malden, USA: Munksgaard International Publishers

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4
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Tatton-Brown, Katrina ; Pilz, Daniela T. ; Örstavik, Karen Helene ; Patton, Michael ; Barber, John C.K. ; Collinson, Morag N. ; Maloney, Vivienne K. ; Huang, Shuwen ; Crolla, John A. ; Marks, Karen ; Ormerod, Eli ; Thompson, Peter ; Nawaz, Zafar ; Lese-Martin, Christa ; Tomkins, Susan ; Waits, Paula ; Rahman, Nazneen ; McEntagart, Meriel

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.147-154 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
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16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study

Ouyang, Y. ; Sakoe, K. ; Shimazaki, H. ; Namekawa, M. ; Ogawa, T. ; Ando, Y. ; Kawakami, T. ; Kaneko, J. ; Hasegawa, Y. ; Yoshizawa, K. ; Amino, T. ; Ishikawa, K. ; Mizusawa, H. ; Nakano, I. ; Takiyama, Y.

Journal of the neurological sciences, 2006-09, Vol.247 (2), p.180-186 [Periódico revisado por pares]

Shannon: Elsevier B.V

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6
16q-linked autosomal dominant cerebellar ataxia in a Korean family
16q-linked autosomal dominant cerebellar ataxia in a Korean family
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16q-linked autosomal dominant cerebellar ataxia in a Korean family

Lee, P. H. ; Park, H. Y. ; Jeong, S.-Y. ; Hong, J.-H. ; Kim, H. J.

European journal of neurology, 2007-06, Vol.14 (6), p.e16-e17 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
17-Year Follow-up Study of a Patient With Obstructive Hypertrophic Cardiomyopathy With a Deletion Mutation in the Cardiac Myosin Binding Protein C Gene
17-Year Follow-up Study of a Patient With Obstructive Hypertrophic Cardiomyopathy With a Deletion Mutation in the Cardiac Myosin Binding Protein C Gene
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17-Year Follow-up Study of a Patient With Obstructive Hypertrophic Cardiomyopathy With a Deletion Mutation in the Cardiac Myosin Binding Protein C Gene

Ogimoto, Akiyoshi ; Hamada, Mareomi ; Nakura, Jun ; Shigematsu, Yuji ; Hara, Yuji ; Ohtsuka, Tomoaki ; Morishima, Atsuyuki ; Kimura, Akinori ; Miki, Tetsuro ; Hiwada, Kunio

Circulation Journal, 2004, Vol.68(2), pp.174-177 [Periódico revisado por pares]

Japan: The Japanese Circulation Society

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8
17p duplicated Charcot-Marie-Tooth 1A : Characteristics of a new population
17p duplicated Charcot-Marie-Tooth 1A : Characteristics of a new population
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17p duplicated Charcot-Marie-Tooth 1A : Characteristics of a new population

MARQUES, Wilson JR ; FREITAS, Marcos R ; NASCIMENTO, Osvaldo J. M ; OLIVEIRA, Acary B ; CALIA, Leandro ; MELO, Ailton ; LUCENA, Rita ; ROCHA, Vera ; BARREIRA, Amilton A

Journal of neurology, 2005-08, Vol.252 (8), p.972-979 [Periódico revisado por pares]

Berlin: Springer

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9
17q-Linked Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Without Tau Mutations With Tau and α-Synuclein Inclusions
17q-Linked Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Without Tau Mutations With Tau and α-Synuclein Inclusions
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17q-Linked Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Without Tau Mutations With Tau and α-Synuclein Inclusions

Wilhelmsen, Kirk C ; Forman, Mark S ; Rosen, Howard J ; Alving, Loren I ; Goldman, Jill ; Feiger, Jennie ; Lee, James V ; Segall, Samantha K ; Kramer, Joel H ; Lomen-Hoerth, Catherine ; Rankin, Katherine P ; Johnson, Julene ; Feiler, Heidi S ; Weiner, Michael W ; Lee, Virginia M.-Y ; Trojanowski, John Q ; Miller, Bruce L

Archives of neurology (Chicago), 2004-03, Vol.61 (3), p.398-406

Chicago, IL: American Medical Association

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10
[18F]FDOPA PET as an endophenotype for Parkinson's Disease linkage studies
[18F]FDOPA PET as an endophenotype for Parkinson's Disease linkage studies
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[18F]FDOPA PET as an endophenotype for Parkinson's Disease linkage studies

Racette, Brad A. ; Good, Laura ; Antenor, Jo Ann ; McGee-Minnich, Lori ; Moerlein, Stephen M. ; Videen, Tom O. ; Perlmutter, Joel S.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-04, Vol.141B (3), p.245-249 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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