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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover assunto: Humans remover Female remover Child remover
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1
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

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

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2
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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3
Balanced X chromosome inactivation patterns in the Rett syndrome brain
Balanced X chromosome inactivation patterns in the Rett syndrome brain
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Balanced X chromosome inactivation patterns in the Rett syndrome brain

Shahbazian, Mona D. ; Sun, Yaling ; Zoghbi, Huda Y.

American journal of medical genetics, 2002-08, Vol.111 (2), p.164-168

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

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4
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

New York: John Wiley & Sons, Inc

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5
Rett syndrome bibliography
Rett syndrome bibliography
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Rett syndrome bibliography

Holt, Mary C. ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1986, Vol.25 (S1), p.39-46

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

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6
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy
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Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy

Yoshioka, Mieko ; Kuroki, Shigekazu

American journal of medical genetics, 1994-11, Vol.53 (3), p.245-250

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

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7
Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs
Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs
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Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs

Ricci, Enzo ; Bertini, Enrico ; Boldrini, Renata ; Sabatelli, Mario ; Servidei, Serenella ; Mazziotta, Mercedes R. M. ; Bosman, Cesare ; Tonali, Pietro ; Neri, Giovanni ; Reynolds, James F.

American journal of medical genetics, 1988-12, Vol.31 (4), p.933-942

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

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8
Neuropathology of rett syndrome
Neuropathology of rett syndrome
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Neuropathology of rett syndrome

Jellinger, Kurt ; Seitelberger, Franz ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1986, Vol.25 (S1), p.259-288

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

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9
A study of the natural history of rett syndrome in 23 girls
A study of the natural history of rett syndrome in 23 girls
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A study of the natural history of rett syndrome in 23 girls

Kerr, Alison M ; Stephenson, J B P ; Opitz, John M. ; Reynolds, James F.

American journal of medical genetics, 1986, Vol.25 (S1), p.77-83

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

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10
Preliminary brain autopsy findings in progredient rett syndrome
Preliminary brain autopsy findings in progredient rett syndrome
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Preliminary brain autopsy findings in progredient rett syndrome

Riederer, P. ; Weiser, M. ; Wichart, I. ; Schmidt, B. ; Killian, W. ; Rett, A. ; Opitz, John M.

American journal of medical genetics, 1986, Vol.25 (S1), p.305-315

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

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