Zoekresultaten - "Clinical Genetics"

Alazami syndrome in an Afghani girl: A case report and review of literature door Mazen S Alzahrani1, Lynne M Bird2

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Prenatal Diagnosis Morphology Scan and Invasive Methods

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Klippel-Feil syndrome in an infant door Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang, Ana María González Anta

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Analysis of Gene-Environment Interactions Related to Developmental Disorders door Yuhei Nishimura, Kenji Kurosawa, Kenji Kurosawa

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First person - Frederike Riemslagh

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Precision medicine in Australia: indigenous health professionals are needed to improve equity for Aboriginal and Torres Strait Islanders door Dawn Alison Lewis, Tala Mitchell, Emma Kowal

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Robinow syndrome associated with chronic kidney failure in terminal stage door Yaribel Fernandez Rodriguez, Rosa María Sardina Solís, Hubert García Zapata

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Evaluation of growth and development of patients with Down syndrome in Santiago de Cuba door Tamara Rubio González, Lisandra Norbert Vázquez, Dianelys de la Caridad García González

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Alagille Syndrome: A Novel Mutation in JAG1 Gene door Rita Fischetto, Viviana V. Palmieri, Maria E. Tripaldi, Alberto Gaeta, Angela Michelucci, Maurizio Delvecchio, Ruggiero Francavilla, Paola Giordano

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KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders door Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao

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New variants of <em>ABCA12</em> in harlequin ichthyosis baby door Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos

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"Photoanthropometric Investigation of Facial Structures in Iranian Children with Down Syndrome and Normal Controls" door DD Farhud, M Mahmoudi, P Derakhshandeh P, S Stengel-Rutkowski

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Uma produção de significados sobre a síndrome de Down Production of meanings related to Down syndrome door Maria Helena Cabral de Almeida Cardoso

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"Photoanthropometric Investigation of Facial Structures in Iranian Children with Down Syndrome and Normal Controls" door DD Farhud, M Mahmoudi, P Derakhshandeh P, S Stengel-Rutkowski

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The personalised medicine: a paradigm of evidence-based medicine door Dhavendra Kumar

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PROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDREN door O. G. Novoselova, G. A. Karkashadze, N. V. Zhurkova, O. I. Maslova

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Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling door Ana Elena Arús Fernández, Enrique Arús Soler

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Ecografía de las malformaciones congénitas del sistema nervioso central Echography of congenital malformations of the central nervous system door Carlos Andrés Toirac Romani, Acelia Salmon Cruzata, Mirelvis Musle Acosta, Yamilé Rosales Fargié, Vivian Dosouto Infante

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Craniofacial abnormalities among patients with Edwards Syndrome door Rafael Fabiano M. Rosa, Rosana Cardoso M. Rosa, Marina Boff Lorenzen, Paulo Ricardo G. Zen, Carla Graziadio, Giorgio Adriano Paskulin

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Monogenic disorders as mimics of juvenile idiopathic arthritis door Laura Furness, Phil Riley, Neville Wright, Siddharth Banka, Stephen Eyre, Adam Jackson, Tracy A. Briggs

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