Guillermo Lay-Son - Unidad Genet, Pontificia Univ Catolica Chile

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论文共 46 篇作者统计合作学者相似作者

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Decoding Complex Inherited Phenotypes in Rare Disorders: the DECIPHERD Initiative for Rare Undiagnosed Diseases in Chile

M. Cecilia Poli,Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana,Gabriela Moreno, Luz M. Martín,Gonzalo Encina, Daniela Böhme,Víctor Faundes, M. Jesús Zavala,Trinidad Hasbún,Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira,Javiera de la Cruz,Camila Astudillo,Guillermo Lay-Son, Carolina Cares,Mariana Aracena, Esteban San Martin,Zeynep Coban-Akdemir,Jennifer E. Posey,James R. Lupski,Gabriela M. Repetto

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Silver-Russell Syndrome-Like Features in a Child with Recombinant Chromosome 11 Derived from Maternal Pericentric Inversion

Abraham Urzua, Sofia Catena,Paulina Morales,Guillermo Lay-Son

CLINICAL DYSMORPHOLOGYno. 3 (2024): 105-109

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Action against birth defects: if not now, when

Kathleen Strong, Judith Robb-McCord,Salimah Walani,Cecilia Mellado,Lorenzo D Botto,Guillermo Lay-Son,Theresa Diaz,Tahmina Banu,Kokila Lakhoo,Anshu Banerjee

Global health actionno. 1 (2024): 2354002-2354002

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Another Face of RASA1: Report of Familial Germline Variant in RASA1 with Dysmorphic Features

Esteban Hume,Maria-Laura Cossio,Paula Vargas, Maria Paz Cubillos,Andrea Maccioni,Guillermo Lay-Son

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2024)

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Tenorio syndrome: description of 9 new cases and review of the clinical and molecular features

Jair Tenorio,Pedro Arias,Alberto Fernandez-Jaen,Guillermo Lay-Son,Allan Bayat,Laurence Olivier-Faivre,Natalia Gallego,Sergio Ramos,James Lespinasse,Frederic Tran-Mau-Them,Fernando Santos-Simarro,Lucile Pinson, Antonio Federico Martinez-Monseny,Maria del Mar O'Callaghan Cord,Pablo Lapunzina

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

Yanireth Jimenez,Cesar Paulsen,Eduardo Turner,Sebastian Iturra, Oscar Cuevas,Guillermo Lay-son,Gabriela M. Repetto,Marcelo Rojas,Juan F. Calderon

Genes（2022）

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Consenso De La Rama De Genética De La Sociedad Chilena De Pediatría Sobre Priorización De Personas Con Síndrome De Down Y Otras Condiciones Poco Frecuentes En La Campaña De Vacunación COVID-19

Víctor Faundes,Rosa Pardo,Francisco Cammarata-Scalisi,Pablo Alarcón,Guillermo Lay-Son, Esteban San Martín

Andes Pediatrica（2021）

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Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Yves Lacassie,Britt Johnson,Guillermo Lay-Son,Rita Quintana, Andrew King,Fanny Cortes, Cecilia Alvarez,Ricardo Gomez,Alfonso Vargas,Stuart Chalew,Alejandra King, Sylvia Guardia,Ricardo U. Sorensen,Swaroop Aradhya

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 7 (2020): 1767-1775

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