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Results 1 - 20 of 26  for Central Connecticut State University

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1
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Females are mosaics X inactivation and sex differences in disease

Migeon, Barbara R.

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2
PathoGenetics.
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Journal
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PathoGenetics.

BioMed Central Ltd.

London : BioMed Central 2008-

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3
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Article
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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

Cho, Hyun-Jung ; Shin, Mee-Yong ; Ahn, Kang-Mo ; Lee, Sang Il ; Kim, Hee-Jin ; Ki, Chang-Seok ; Kim, Jong-Won

Journal of Korean Medical Science, 2006, Vol.21(5), p.790-793 [Peer Reviewed Journal]

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4
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Article
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The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity

Combeau, Gaëlle ; Kreis, Patricia ; Domenichini, Florence ; Amar, Muriel ; Fossier, Philippe ; Rousseau, Véronique ; Barnier, Jean-Vianney ;Perignon, Alain (Editor)

Journal of Biological Chemistry, 31 August 2012, Vol.287(36), pp.30084-96 [Peer Reviewed Journal]

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5
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Article
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Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome *

De Almeida Jr, Hiram Larangeira ; Rossi, Gabriela ; De Abreu, Luciana Boff ; Bergamaschi, Cristina ; Da Silva, Alessandra Banaszeski ; Kutsche, Kerstin

Anais Brasileiros de Dermatologia, 2014, Vol.89(1), p.180-181 [Peer Reviewed Journal]

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6
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Article
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Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome

Almeida Jr, Hiram Larangeira de ; Rossi, Gabriela ; Abreu, Luciana Boff de ; Bergamaschi, Cristina ; Silva, Alessandra Banaszeski Da ; Kutsche, Kerstin

Anais Brasileiros de Dermatologia, 01 January 2014, Vol.89(1), pp.180-181 [Peer Reviewed Journal]

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7
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Article
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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Marques, Gabriela Franco ; Tonello, Claudio Sampieri ; Sousa, Juliana Martins Prazeres

Anais Brasileiros de Dermatologia, 01 June 2014, Vol.89(3), pp.486-489 [Peer Reviewed Journal]

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8
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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis *

Marques, Gabriela Franco ; Tonello, Claudio Sampieri ; Sousa, Juliana Martins Prazeres

Anais Brasileiros de Dermatologia, 2014, Vol.89(3), p.486-489 [Peer Reviewed Journal]

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9
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Incontinentia pigmenti

Poziomczyk, Claudia Schermann ; Recuero, Julia Kanaan ; Bringhenti, Luana ; Maria, Fernanda Diffini Santa ; Campos, Carolina Wiltgen ; Travi, Giovanni Marcos ; Freitas, Andre Moraes ; Maahs, Marcia Angelica Peter ; Zen, Paulo Ricardo Gazzola ; Fiegenbaum, Marilu ; Almeida, Sheila Tamanini de ; Bonamigo, Renan Rangel ; Bau, Ana Elisa Kiszewski

Anais Brasileiros de Dermatologia, 01 January 2014, Vol.89(1), pp.26-36 [Peer Reviewed Journal]

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10
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Endocrinal description of two Chinese Kennedy’s disease pedigrees

Li, Fang ; Aji, Gulibositan ; Leng, Fei ; Chen, Jia-Chao ; Luo, Yu ; Zhang, Jing ; Hu, Ke ; Cheng, Zi-Yun ; Xu, Xi ; Lu, Zhi-Qiang

Journal of Clinical Neuroscience, January 2018, Vol.47, pp.245-248 [Peer Reviewed Journal]

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11
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Article
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Você conhece esta síndrome?

Urbano, Lilian Mendes Ferreira ; Leal, Isabel Irene Ramos ; Costa, Izelda Maria Carvalho

Anais Brasileiros de Dermatologia, 01 April 2011, Vol.86(2), pp.391-391 [Peer Reviewed Journal]

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12
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Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation

Darcan, Sukran ; Goksen, Damla ; Ozen, Samim ; Ozkinay, Ferda ; Durmaz, Burak ; Lalli, Enzo ;Loudig, Nadine (Editor)

Hormone Research in Paediatrics, February 2011, Vol.75(2), pp.153-6 [Peer Reviewed Journal]

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13
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Article
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Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells

Brault, Julie ; Vaganay, Guillaume ; Le Roy, Aline ; Lenormand, Jean-Luc ; Cortès, Sandra ; Stasia, Marie José ;Thomas, Frank (Editor)

International Journal of Nanomedicine, 20 March 2017, Vol.12(2), pp.2161-2177 [Peer Reviewed Journal]

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14
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Article
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Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis

Frémond, M.-L ; Pérot, P ; Muth, E ; Cros, G ; Dumarest, M ; Mahlaoui, N ; Seilhean, D ; Desguerre, I ; Hébert, C ; Corre-Catelin, N ; Neven, B ; Lecuit, M ; Blanche, S ; Picard, C ; Eloit, M ;Diakite, Andrée (Editor)

Journal of the Pediatric Infectious Diseases Society, 21 August 2015, Vol.4(3), pp.e53-e57

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15
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Article
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Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome

Boulet, Stéphanie ; Dieterich, Klaus ; Althuser, Marc ; Nugues, Frédérique ; Durand, Claudia ; Charra, Catherine ; Schaal, Jean-Patrick ; Jouk, Pierre-Simon ;Roux-Buisson, Nathalie (Editor)

Fetal Diagnosis and Therapy, 2010, Vol.28(3), pp.186-90 [Peer Reviewed Journal]

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16
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Article
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X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with γc Chain Gene Mutation and Subsequent Genetic Counseling

Jo, Eun-Kyeong ; Kumaki, Satoru ; Wei, Du ; Tsuchiya, Shigeru ; Kanegane, Hirokazu ; Song, Chang-Hwa ; Noh, Ha Young ; Kim, Young Ok ; Kim, So Yeon ; Chung, Hae Yul ; Kim, Yoon Ha ; Kook, Hoon

Journal of Korean Medical Science, 2004, Vol.19(1), p.123-126 [Peer Reviewed Journal]

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17
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Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients

Oh, Heung-Bum ; Park, Joon Seok ; Lee, Woochang ; Yoo, Soo Jin ; Yang, Jin Hyuk ; Oh, Sun-Young

Journal of Korean Medical Science, 2004, Vol.19(2), p.218-222 [Peer Reviewed Journal]

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18
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Le cas clinique du mois. Hydrocephalie liee a i'X: a spropos d'un cas en medecine foetale. ; X-linked hydrocephaly. A case report in fetal medicine

Syrios, K. ; Delbecoue, K. ; Gaillez, Stephanie ; Schaaps, Jean - Pierre ; Chantraine, Frédéric

Revue Médicale de Liège, 66(3), 126-9. Liège, Belgique: Université de Liège. Revue Médicale de Liège (2011).

2011

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19
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Article
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Caso para diagnóstico

Carvalho, Carine Veloso de ; Bastazini Junior, Ivander ; Barreto, Jaison Antonio ; Duarte, Isabela de Brito ; Figueiredo, Raissa Borém Pimenta de

Anais Brasileiros de Dermatologia, 01 October 2009, Vol.84(5), pp.539-541 [Peer Reviewed Journal]

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20
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Article
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Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutación

Agudelo-Flórez, Piedad ; Navarro V, Sara ; Luttges D, Pamela ; López, Juan Alvaro ; Norambuena R, Ximena ; Navarrete S, Carmen Luz ; Quezada L, Arnoldo ; Spencer Y, Michael ; Condino-Neto, Antonio ; Cornejo De L, Mónica

Revista médica de Chile, 01 August 2006, Vol.134(8), pp.965-972 [Peer Reviewed Journal]

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