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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover assunto: Medical Sciences remover
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1
Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes
Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes
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Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

Celle, Livija ; Lee, Laura ; Rintoul, Natalie ; Savani, Rashmin C. ; Long, Wendy ; Mennuti, Michael T. ; Krantz, Ian D.

American journal of medical genetics, 2000-09, Vol.94 (2), p.125-140

New York: John Wiley & Sons, Inc

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2
De novo interstitial tandem duplication of chromosome 4(q21‐q28)
De novo interstitial tandem duplication of chromosome 4(q21‐q28)
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De novo interstitial tandem duplication of chromosome 4(q21‐q28)

Navarro, E. Guillen ; Romero, M. C. Martinez ; Expósito, I. Lopez ; Velasco, C. Mendez ; Llamas, J. Gabarrón ; Ramón, F. J. Hernandez ; Jimenez, R. Domingo

American journal of medical genetics, 1996-03, Vol.62 (3), p.297-299

New York: Wiley Subscription Services, Inc., A Wiley Company

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3
De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p
De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p
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De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

Legare, Janet M. ; Sekhon, Gurbax S. ; Laxova, Renata

American journal of medical genetics, 1994-11, Vol.53 (3), p.216-221

New York: Wiley Subscription Services, Inc., A Wiley Company

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4
Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection
Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection
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Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection

Chen, Zhong ; Grebe, Theresa A. ; Guan, Xin-Yuan ; Notohamiprodjo, Mathilda ; Nutting, Pamela J. ; Stone, John F. ; Trent, Jeffrey M. ; Sandberg, Avery A.

American journal of medical genetics, 1997-08, Vol.71 (2), p.160-166 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation
Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation
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Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation

Metzke‐Heidemann, S. ; Kuhling‐von Kaisenberg, H. ; Caliebe, A. ; Janssen, D. ; Jonat, W. ; Grote, W. ; von Kaisenberg, C.S.

American journal of medical genetics, 2004-04, Vol.126A (2), p.197-203 [Periódico revisado por pares]

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

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6
Partial duplication of 4q12q13 leads to a mild phenotype
Partial duplication of 4q12q13 leads to a mild phenotype
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Partial duplication of 4q12q13 leads to a mild phenotype

Shashi, Vandana ; Berry, Margaret N. ; Santos, César ; Pettenati, Mark J.

American journal of medical genetics, 1999-09, Vol.86 (1), p.51-53

New York: Wiley Subscription Services, Inc., A Wiley Company

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7
New chromosome aberration: Duplication of a large part of chromosome 4q and partial deletion of chromosome 1q
New chromosome aberration: Duplication of a large part of chromosome 4q and partial deletion of chromosome 1q
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New chromosome aberration: Duplication of a large part of chromosome 4q and partial deletion of chromosome 1q

Merlob, Paul ; Kohn, Gertrude ; Litwin, Aviva ; Nissenkorn, Ilana ; Katznelson, Mariasa Bath-Miriam ; Reisner, Salomon H. ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1989-01, Vol.32 (1), p.22-26 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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8
Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)
Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)
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Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)

Jeziorowska, Anna ; Ciesla, Wlodzimierz ; Houck Jr, George E. ; Yao, Xiu-Lan ; Harris, Marsha S. ; Truszczak, Barbara ; Skorski, Maria ; Jakubowski, Lucjusz ; Jenkins, Edmund C. ; Kaluzewski, Bogdan

American journal of medical genetics, 1993-04, Vol.46 (1), p.83-87

New York: Wiley Subscription Services, Inc., A Wiley Company

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9
Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis
Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis
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Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis

Opitz, John M. ; Mollica, Florindo ; Sorge, Giovanni ; Milana, Gabriella ; Cimino, Gabriella ; Caltabiano, Mario

American journal of medical genetics, 1993-10, Vol.47 (5), p.660-678

New York: Wiley Subscription Services, Inc., A Wiley Company

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10
Familial t(4;13) with abnormal offspring in three generations
Familial t(4;13) with abnormal offspring in three generations
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Familial t(4;13) with abnormal offspring in three generations

Najafzadeh, Touran M. ; Littman, Vicki A. ; Dumars, Kenneth W. ; Opitz, John M.

American journal of medical genetics, 1983-09, Vol.16 (1), p.15-22

New York: Wiley Subscription Services, Inc., A Wiley Company

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