Search Results - "genetic counseling"

FAMILY SURVEILLANCE OF OSTEOGENESIS IMPERFECTA: PREGNANCY OUTCOMES, TACTICAL APPROACHES, AND PROSPECTS FOR SOLVING THE PROBLEM by Сергей Васильевич Матошин, Светлана Владимировна Шрамко

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MOS mutation causes female infertility with large polar body oocytes by Guangzhong Jiao, Huayu Lian, Jinhao Xing, Lili Chen, Zhaoli Du, Xiaoyan Liu

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"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency by Paquay Stephanie, Barrea Catherine, Sluysmans Thierry, Vachiery Jean-Luc, Loeckx Isabelle, Seneca Sara, Vô Christophe, Nassogne Marie-Cecile

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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report by Fengdan Yu, Junyi Wang, Xiaojing Xu

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Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations by Hunmin Kim, Hee Hwang, Hae Il Cheong, Hye Won Park

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Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene by Evgenia Melnik, Margarita Sharova, Vladimir Kenis, Anna Morgul, Viktoria Zabnenkova, Tatiana Markova

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A Comprehensive Look at the Development of Asthma in Children by Ileana Diana Diaconu, Veronica Gheorman, Gabriela Adriana Grigorie, Cristian Gheonea, Tiberiu-Stefanita, Beatrice Mahler, Ion Alexandru Voropanov, Mihnea Cristian Firoiu, Andreea Silvia Pîrvu, Alexandru Bogdan Popescu, Renata Văruț

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Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial c.8344A>G Variant by Uththara Perera, Brooke A. Kennedy BSc, Robert A. Hegele MD, FRCPC, FACP

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Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl by Xuening Hou, Jie Sun, Chen Liu, Jihong Hao

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Prenatal diagnosis of Neu-Laxova syndrome: a case report by Polat Ibrahim, Gul Ahmet, Aslan Halil, Mutaf Cihan, Agar Mehmet, Ceylan Yavuz

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Coincidence of Trisomy 18 and Robertsonian (13; 14) by A Jamal, S Mousavi, A Alavi

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Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series by Maryam Hassanlou, Maryam Abiri, Sirous Zeinali

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Characterization of a group unrelated patients with arthrogryposis multiplex congenita by Margarita Valdés‐Flores, Leonora Casas‐Avila, Edgar Hernández‐Zamora, Susana Kofman, Alberto Hidalgo-Bravo

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Genetic-molecular characterization in the diagnosis of primary immunodeficiencies by Gesmar Rodrigues Silva Segundo

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Ectodermal Dysplasia - An Overview and Update by Anubha Dev, Kittu Malhi, Rahul Mahajan

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Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature by Anolys Narciso Piña Rodríguez, Osiris Intento García, Sady Montes Amador

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Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel by Aliza Amiel, Wasef Na'amnih, Mahdi Tarabeih

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R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report by Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi

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Joubert syndrome: a case report of neonatal presentation and early diagnosis by Carla I. González-Gordillo, Leslie E. Orozco-Soto, Juan R. Osegueda-Mayen, Alejandra Nava-Tapia, Dario Martinez-Monreal

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Latinx individuals' knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review by Natalie Grafft, Andrew A. Dwyer, María Pineros-Leano

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