Results 201 to 210 of about 6,737,380 (379)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Experts' attitudes towards 'targeted autopsies' using qualitative interviews in a medical network in Germany. [PDF]

BMJ Open
Kaiser U, Evert K, Vehling-Kaiser U, Lüke F, Herr W, Rechenmacher M.   +5 more
europepmc   +1 more source

Qualitative Interview Data on the Implementation of Bioedupreneur as an Experiential Entrepreneurship Learning Model

Muhammad Irsad Maulana Khilman Asy-Syafi'i, Siti Fatimah Putri Dzakwan, Alania Zuhair, Taufikurrahman Al Aziz, Nadya Yulia   +4 more
openalex   +1 more source

Theorizing Interviews within Qualitative Research [PDF]

, 2014
Stuart Cunningham, カニンハム スチュアート   +1 more
core   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Financial Burden in Adults With Chronic Illness in Switzerland: A Secondary Analysis of Qualitative Interviews Using Natural Language Processing and Topic Modeling. [PDF]

JMIR Form Res
Spitale G, Seinsche J, Visscher RMS, Schöpf-Lazzarino A, Jurisic J, Germani F, Alder E, Biller Andorno N, Ribi K, Schwind B.   +9 more
europepmc   +1 more source

Becoming a Qualitative Researcher:A Narrative Account of Conducting My First Qualitative Study Involving In-depth Life History Interviews [PDF]

, 2014
Joseph, Molefe
core  

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Patients' Perspectives Regarding Ankylosing Spondylitis Treatment Administration Features: Evidence from Qualitative Interviews and a Multinational Quantitative Preference Survey. [PDF]

Rheumatol Ther
Deodhar A, Maculaitis MC, Kopenhafer L, Beusterien K, Ling YL, Hauber B, Cappelleri JC, Yndestad A, Phillips LR, Zayed M.   +9 more
europepmc   +1 more source

Challenges to reliable ICD-10 coding of child maltreatment : a qualitative interview study of healthcare professionals in German and Swedish hospitals

Walter, Teresa, Korhonen, Laura, Otterman, Gabriel, Agthoven, Godfried van, Jud, Andreas   +4 more
openalex   +1 more source