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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover assunto: Humans remover Female remover
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1
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease
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Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease

Endo, Kotaro ; Sasaki, Hidenao ; Wakisaka, Akemi ; Tanaka, Hajime ; Saito, Masaaki ; Igarashi, Shuichi ; Takiyama, Yoshihisa ; Sanpei, Kazuhiro ; Iwabuchi, Kiyoshi ; Suzuki, Yoshihiro ; Onari, Keiko ; Suzuki, Tomokazu ; Weissenbach, Jean ; Weber, James L. ; Nomura, Yoshiko ; Segawa, Masaya ; Nishizawa, Masatoyo ; Tsuji, Shoji

American journal of medical genetics, 1996-09, Vol.67 (5), p.437-444 [Periódico revisado por pares]

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

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2
Anatomy of rett syndrome
Anatomy of rett syndrome
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Anatomy of rett syndrome

Nomura, Yoshiko ; Segawa, Masaya ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1986, Vol.25 (S1), p.289-303 [Periódico revisado por pares]

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

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3
Rett syndrome in females with CTS hot spot deletions: A disorder profile
Rett syndrome in females with CTS hot spot deletions: A disorder profile
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Rett syndrome in females with CTS hot spot deletions: A disorder profile

Smeets, E. ; Terhal, P. ; Casaer, P. ; Peters, A. ; Midro, A. ; Schollen, E. ; van Roozendaal, K. ; Moog, U. ; Matthijs, G. ; Herbergs, J. ; Smeets, H. ; Curfs, L. ; Schrander-Stumpel, C. ; Fryns, J.P.

American journal of medical genetics, 2005-01, Vol.132A (2), p.117-120 [Periódico revisado por pares]

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

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4
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21
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Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

Gregory‐Evans, C.Y. ; Vieira, H. ; Dalton, R. ; Adams, G.G.W. ; Salt, A. ; Gregory‐Evans, K.

American journal of medical genetics, 2004-11, Vol.131A (1), p.86-90 [Periódico revisado por pares]

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

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5
D2 dopamine receptor polymorphism and brain regional glucose metabolism
D2 dopamine receptor polymorphism and brain regional glucose metabolism
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D2 dopamine receptor polymorphism and brain regional glucose metabolism

Noble, Ernest P. ; Gottschalk, Louis A. ; Fallon, James H. ; Ritchie, Terry L. ; Wu, Joseph C.

American journal of medical genetics, 1997-04, Vol.74 (2), p.162-166 [Periódico revisado por pares]

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

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6
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
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Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

Smeets, E. ; Schollen, E. ; Moog, U. ; Matthijs, G. ; Herbergs, J. ; Smeets, H. ; Curfs, L. ; Schrander-Stumpel, C. ; Fryns, J.P.

American journal of medical genetics, 2003-10, Vol.122A (3), p.227-233 [Periódico revisado por pares]

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

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7
MECP2 mutation analysis in patients with mental retardation
MECP2 mutation analysis in patients with mental retardation
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MECP2 mutation analysis in patients with mental retardation

Ylisaukko-oja, Tero ; Rehnström, Karola ; Vanhala, Raija ; Kempas, Elli ; von Koskull, Harriet ; Tengström, Carola ; Mustonen, Aki ; Õunap, Katrin ; Lähdetie, Jaana ; Järvelä, Irma

American journal of medical genetics, 2005-01, Vol.132A (2), p.121-124 [Periódico revisado por pares]

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

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8
Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections
Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections
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Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections

Chiyonobu, Tomohiro ; Yoshihara, Takao ; Fukushima, Yoko ; Yamamoto, Yasutoshi ; Tsunamoto, Kentaro ; Nishimura, Yasutaka ; Ishida, Hiroyuki ; Toda, Tatsushi ; Kasubuchi, Yasuo

American journal of medical genetics, 2002-04, Vol.109 (1), p.61-66 [Periódico revisado por pares]

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

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9
Haplotype–Phenotype correlation in Fukuyama congenital muscular dystrophy
Haplotype–Phenotype correlation in Fukuyama congenital muscular dystrophy
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Haplotype–Phenotype correlation in Fukuyama congenital muscular dystrophy

Saito, Kayoko ; Osawa, Makiko ; Wang, Zhi‐Ping ; Ikeya, Kiyoko ; Fukuyama, Yukio ; Kondo‐Iida, Eri ; Toda, Tatsushi ; Ohashi, Hirofumi ; Kurosawa, Kenji ; Wakai, Shuji ; Kaneko, Ken‐ichiro

American journal of medical genetics, 2000-05, Vol.92 (3), p.184-190 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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10
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome
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Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome

Harris, James C. ; Wong, Dean F. ; Wagner Jr, Henry N. ; Rett, Andreas ; Naidu, Sakkubai ; Dannals, R. F. ; Links, J. M. ; Batshaw, Mark L. ; Moser, Hugo W. ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1986, Vol.25 (S1), p.201-210 [Periódico revisado por pares]

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

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