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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Paz‐y‐Miño, César ; Yumiceba, Verónica ; Moreta, Germania ; Paredes, Rosario ; Ruiz, Mónica ; Ocampo, Ligia ; Llamos Paneque, Arianne ; Ochoa Pérez, Catalina ; Ruiz‐Cabezas, Juan Carlos ; Álvarez Vidal, Jenny ; Jiménez Torres, Idarmis ; Vargas‐Vera, Ramón ; Cruz, Fernando ; Guapi N, Víctor Hugo ; Montalván, Martha ; Meneses Álvarez, Sara ; Garzón Castro, Maribel ; Lamar Segura, Elizabeth ; Recalde Báez, María Augusta ; Naranjo, María Elena ; Tambaco Jijón, Nina ; Sinche, María ; Licuy, Pedro ; Burgos, Ramiro ; Porras‐Borja, Fabián ; Echeverría‐Garcés, Gabriela ; Pérez‐Villa, Andy ; Armendáriz‐Castillo, Isaac ; García‐Cárdenas, Jennyfer M. ; Guerrero, Santiago ; Guevara‐Ramírez, Patricia ; López‐Cortés, Andrés ; Zambrano, Ana Karina ; Leone, Paola E.

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1087-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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2
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
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Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders

Seidlitz, Jakob ; Nadig, Ajay ; Liu, Siyuan ; Bethlehem, Richard A I ; Vértes, Petra E ; Morgan, Sarah E ; Váša, František ; Romero-Garcia, Rafael ; Lalonde, François M ; Clasen, Liv S ; Blumenthal, Jonathan D ; Paquola, Casey ; Bernhardt, Boris ; Wagstyl, Konrad ; Polioudakis, Damon ; de la Torre-Ubieta, Luis ; Geschwind, Daniel H ; Han, Joan C ; Lee, Nancy R ; Murphy, Declan G ; Bullmore, Edward T ; Raznahan, Armin

Nature communications, 2020-07, Vol.11 (1), p.3358-3358, Article 3358 [Periódico revisado por pares]

England: Nature Publishing Group

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3
White matter alterations associated with chromosomal disorders
White matter alterations associated with chromosomal disorders
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White matter alterations associated with chromosomal disorders

García-Cazorla, Angels ; Sans, Anna ; Baquero, Miguel ; García-Bargo, María Dolores ; Arellano, Montse ; Poo, Pilar ; Gean, Esther ; Campistol, Jaume

Developmental medicine and child neurology, 2004-03, Vol.46 (3), p.148-153 [Periódico revisado por pares]

Cambridge, UK: Cambridge University Press

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4
Chromosomal anomalies in patients with short stature
Chromosomal anomalies in patients with short stature
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Chromosomal anomalies in patients with short stature

Moreno-García, Marta ; Fernández-Martínez, Francisco Javier ; Miranda, Emilia Barreiro

Pediatrics international, 2005-10, Vol.47 (5), p.546-549 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Pty

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5
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

Delaney, Angela ; Volochayev, Rita ; Meader, Brooke ; Lee, Janice ; Almpani, Konstantinia ; Noukelak, Germaine Y ; Henkind, Jennifer ; Chalmers, Laura ; Law, Jennifer R ; Williamson, Kathleen A ; Jacobsen, Christina M ; Buitrago, Tatiana Pineda ; Perez, Orlando ; Cho, Chie-Hee ; Kaindl, Angela ; Rauch, Anita ; Steindl, Katharina ; Garcia, Jose Elias ; Russell, Bianca E ; Prasad, Rameshwar ; Mondal, Uttam K ; Reigstad, Hallvard M ; Clements, Scott ; Kim, Susan ; Inoue, Kaoru ; Arora, Gazal ; Salnikov, Kathryn B ; DiOrio, Nicole P ; Prada, Rolando ; Capri, Yline ; Morioka, Kosuke ; Mizota, Michiyo ; Zechi-Ceide, Roseli M ; Kokitsu-Nakata, Nancy M ; Tonello, Cristiano ; Vendramini-Pittoli, Siulan ; da Silva Dalben, Gisele ; Balasubramanian, Ravikumar ; Dwyer, Andrew A ; Seminara, Stephanie B ; Crowley, William F ; Plummer, Lacey ; Hall, Janet E ; Graham, John M ; Lin, Angela E ; Shaw, Natalie D

The journal of clinical endocrinology and metabolism, 2020-05, Vol.105 (5), p.1538-1551 [Periódico revisado por pares]

US: Oxford University Press

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6
Gonadoblastoma in Patients with Ullrich-Turner Syndrome
Gonadoblastoma in Patients with Ullrich-Turner Syndrome
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Gonadoblastoma in Patients with Ullrich-Turner Syndrome

Zelaya, Gabriela ; Marti, Jessica M. López ; Marino, Roxana ; de Dávila, Maria T. Garcia ; Gallego, Marta S.

Pediatric and developmental pathology, 2015-03, Vol.18 (2), p.117-121 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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7
Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries
Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries
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Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries

Baena, Neus ; De Vigan, C. ; Cariati, E. ; Clementi, M. ; Stoll, C. ; Caballín, M.R. ; Guitart, M.

American journal of medical genetics, 2004-08, Vol.129A (1), p.16-20 [Periódico revisado por pares]

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

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8
Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
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Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

Monroy, Nancy ; López, Marisol ; Cervantes, Alicia ; García-Cruz, Diana ; Zafra, Gildardo ; Canún, Sonia ; Zenteno, Juan Carlos ; Kofman-Alfaro, Susana

American journal of medical genetics, 2002-01, Vol.107 (3), p.181-189

New York: John Wiley & Sons, Inc

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