Search Results - "rare diseases"

Thyrotropin serum levels and coexistence with Hashimoto's thyroiditis as predictors of malignancy in children with thyroid nodules by Giuseppina Zirilli, Giuseppina Salzano, Domenico Corica, Giovanni Battista Pajno, Cristina Mignosa, Giorgia Pepe, Filippo De Luca, Giuseppe Crisafulli

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Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1 by Won Kyung Kwon, Jee Ah Kim, Jong-Ho Park, Doo Ri Kim, Su Eun Park, Yae Jean Kim, Keon Hee Yoo, Ja-Hyun Jang, Eun Suk Kang

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Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly by Angela Galeotti, Giovanni Carlo De Vincentiis, Emanuela Sitzia, Giuseppe Marzo, Wanda Maldonato, Gaia Bompiani, Maria Beatrice Chiarini Testa, Alessandra Putrino, Andrea Bartuli, Paola Festa

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Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report by Hanako Sato, Kosuke Murakami, Tomoyuki Otani, Noriomi Matsumura

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MicroRNA-206 Downregulation Improves Therapeutic Gene Expression and Motor Function in mdx Mice by Karen Bulaklak, Bin Xiao, Chunping Qiao, Jianbin Li, Tejash Patel, Quan Jin, Juan Li, Xiao Xiao

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Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center by Odeya David, Odeya David, Rotem Agur, Rosa Novoa, David Shaki, David Shaki, Dganit Walker, Lior Carmon, Lior Carmon, Marina Eskin-Schwartz, Marina Eskin-Schwartz, Ohad S. Birk, Ohad S. Birk, Galina Ling, Galina Ling, Ruth Schreiber, Ruth Schreiber, Neta Loewenthal, Neta Loewenthal, Alon Haim, Alon Haim, Eli Hershkovitz, Eli Hershkovitz

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Ethical issues raised by new genomic technologies: the case study of newborn genome screening by Rachel Horton, Anneke Lucassen

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Primary cystic echinococcosis presented as prolonged disabling knee osteoarthritis: a case report by Samah O Mohager, Abdelsalam M Nail, Rayan A Tonga, Awad H Abdallah, Imad M. Fadl-Elmula

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Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report by Carmela Settimo, Lilla Bonanno, Maria Tresoldi, Rosalia Muratore, Francesca Cucinotta, Emanuela Tripodi, Adriana Piccolo, Smeralda Anchesi, Caterina Impallomeni

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What Do We Know about Spondylodiscitis in Children? A Retrospective Study by Ayla Yagdiran, Charlotte Meyer-Schwickerath, Raphael Wolpers, Christina Otto-Lambertz, Katrin Mehler, Andre Oberthür, Nikolaus Kernich, Peer Eysel, Norma Jung, Kourosh Zarghooni

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The international approach of pediatric thyroid nodules and thyroid differentiated carcinoma. The starting point for the Romanian pediatric guideline by Andreea-Ioana Stefan, Cristina Blag, Gheorghe Popa, Monica Dragomir, Rodica Cosnarovici, Doina Piciu

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Patient with cancer of the vulva - case study by Małgorzata Kardyś, Grażyna Rożek

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A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report by Alexandra Jimenez-Armijo, Khadja Oumensour, Bouchra Bousfiha, Tristan Rey, Tristan Rey, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Samira El Arabi

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Comparison radical surgery versus conservative surgery to decrease post-operative recurrence in ossifying fibroma: systematic review by Adham Marlinda, Dewi Dwi Juliana

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Turner's Syndrome - genetic, diagnostic methods and clinical treatment by Aleksandra Łokczewska-Bojar, Rami Ben Rhaiem, Przemysław Kępka, Daria Kuziemkowska, Jan Kuźma, Anna Łącka-Majcher, Grzegorz Tarsa, Magdalena Skotalczyk, Zuzanna Sawińska, Katarzyna Sudelska

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Síndrome de Netherton: relato de caso by Sabrina Hernandes Conceição, Gabriela Teodoro Machado, Edmara Laura Campiolo, João Ricardo Azevedo Silva

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Giant Condyloma Acuminata (Buschke-Lowenstein Tumor): Review of an Unusual Disease and Difficult to Manage by Jefferson F. Nieves-Condoy, Camilo L. Acuña-Pinzón, José L. Chavarría-Chavira, Diego Hinojosa-Ugarte, Luis A. Zúñiga-Vázquez

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Pulmonary alveolar proteinosis in children: An update on pathogenesis, clinical features and review of literature by Ahmad Hamed, Daniel Rosenbaum, Esther Cheng, Rizwana Popatia

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A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screen... by Min-Ji Kim, Jae Young Cho, Ji Sook Park, Eun Sil Park, Ji-Hyun Seo, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn

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Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report by Yuqing Liu, Zhenwei Chen, Lu Wang, Baizhou Li

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