Search Results - "genetic counseling"

Understanding Taiwanese Women's Decisional Experiences Regarding Prenatal Screening Procedures And Diagnostics: A Phenomenological Study by Mei-Man Chen, Bi-Hua Cheng

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Three Stressed Systems: Health Sciences Faculty Members Navigating Academia, Healthcare, and Family Life during the Pandemic by Keshrie Naidoo, Sarah Kaplan, Callie Jordan Roberts, Laura Plummer

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Tooth agenesis patterns and variants in PAX9: A systematic review by Narin Intarak, Karn Tongchairati, Kittipat Termteerapornpimol, Soranun Chantarangsu, Thantrira Porntaveetus

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Death Following Liver Transplantation in a Child with Crigler-Najjar Syndrome Type I: A Case Report by Ida Soghi, Mohammad Sobhani Shahmirzadi, Hamid Pashah Soltan, Samira Saeedi, Leila Jouybari

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Hereditary ectodermal dysplasia and Lyon hypothesis by Camila Helena Machado da Costa, Maria Luiza dos Anjos Pontual, Andréa dos Anjos Pontual, Ricardo Villar Beltrão, Manuella Santos Carneiro Almeida, Michele Baffi Diniz

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Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis by Selma Bakar Dertlioğlu, Tuba Gökdoğan Edgünlü, Deniz Erol Şen, Tugba Önal Süzek

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Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report by Zhanhui Du, Gang Luo, Kuiliang Wang, Zhen Bing, Silin Pan

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Atypical Mongolian spots in an infant: A harbinger of lysosomal storage disorders by Manisha Varma Gadhiraju, Navya Sree Manugu, Sangeetha Etikela, Yerroju Kodandapani

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Prenatal diagnosis of Down syndrome: A 13-year retrospective study by Ana Vičić, Tomislav Hafner, Ivanka Bekavac Vlatković, Petra Korać, Dubravko Habek, Feodora Stipoljev

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Late presentation of factor XIII deficiency with recurrent muscle hematomas by Sudesh Kumar, Piyali Bhattacharya, Anamika Kumari

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Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product by Honghong Zhang, Yixi Sun, Yixi Sun, Yuxia Zhu, Jiali Hong, Miaomiao Zheng

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Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil by Adorno Elisângela Vitória, Couto Fábio David, Moura Neto José Pereira de, Menezes Joelma Figueiredo, Rêgo Marco, Reis Mitermayer Galvão dos, Gonçalves Marilda Souza

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Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome by Chih-Ping Chen, Schu-Rern Chern, Chien-Hsing Lin, Chin-Yuan Hsu, Hsiang-Yu Lin, Fang-Tzu Wu, Shin-Wen Chen, Wayseen Wang

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An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran by Mona Asghari Ahmadabad, Noushin Pourreza, Setareh Ramezanpour, Adel Baghersalimi, Mersedeh Enshaei, Marjan Askari, Amirhossein Alizadeh, Elahe Izadi, Bahram Darbandi

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Congenital hearing loss: a literature review of the genetic etiology in a Mexican population by Carlos De la Torre-González, Dina Villanueva-García, Constanza García-Delgado, Salvador Castillo-Castillo, Marisol Huante-Guido, Josefina Chichitz-Madrigal, María E. Juárez-Torres, Ana L. Sánchez-Sandoval, Eira V. Barrón-Palma, Verónica F. Morán-Barroso

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A case report of Omenn syndrome in siblings by Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska

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Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders by Zhu Xintong, Zhang Kexin, Wang Junwen, Wang Ziyi, Luo Na, Guo Hong

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Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba by Yadira Valdés Fraser, Tatiana Acosta Sánchez, Jacqueline Pérez Rodríguez, Beatriz Suárez Besil, Sandra Bárbara Correa Jiménez

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Rare variants in GPR3 in POI patients: a case series with review of literature by Shuting Ren, Feng Zhang, Lingyue Shang, Xi Yang, Yuncheng Pan, Xiaojin Zhang, Yanhua Wu

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Taking Care of the Puerto Rican Patient: Historical Perspectives, Health Status, and Health Care Access by Débora H. Silva Díaz, Glenn Garcia, Camille Clare, Julia Su, Erica Friedman, Renee Williams, Juan Vazquez, John Paul Sánchez

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