Search Results - "geneticist"

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  1. 41
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    Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome by Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli

    Published 2018
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  2. 42
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    Neurological and Neurosurgical Aspects of Hypophosphatasia by Vadim P. Ivanov, Leonid A. Satanin, Alexander V. Kim, Ludmila M. Kuzenkova, Tea V. Margieva, Sofia G. Popovich

    Published 2018
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  3. 43
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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

    Published 2024
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  4. 44
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    Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study by Michael Vaiman, Phillip Shilco, Yulia Roitblat, Nicolas Padilla-Raygoza, Aidan Leit, Aaron Kavin, Edan Schonberger, Liliia Nehuliaieva, Noa Buchris, Michael Shterenshis

    Published 2019
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  5. 45
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    GM2-gangliosidosis, type I (Tay - Sachs disease) in the pediatrician practice by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova

    Published 2021
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  6. 46
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    Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France by Monika Hermann, Babak Khoshnood, Olivia Anselem, Claire Bouvattier, Aurélie Coussement, Sophie Brisset, Alexandra Benachi, Vassilis Tsatsaris

    Published 2019
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  7. 47
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    Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years by N. V. Avramenko, H. A. Lomeyko, O. A. Nikiforov, O. S. Sukhonos

    Published 2016
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  8. 48
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    Distal Arthrogryposis in Newborn: Clinical Case by Vasily P. Gavrilyuk, Yana V. Evseeva, Oleg V. Cherevko, Dmitry A. Severinov

    Published 2020
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  9. 49
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    Blau syndrome: a case report from Palestine by Salam Iriqat, Mohammed Abu Safieh, Manuel Fatouleh, Abdulsalam Alkaiyat

    Published 2021
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  10. 50
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    Prenatal detection of Trisomy 18q: Edwards syndrome by Šljivančanin Dragiša B., Tadić Jasmina Ž., Šango Violeta S., Zdelar-Stojanović Ljiljana M., Petrović Bojana O.

    Published 2022
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  11. 51
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    A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification by Alessia Tognetto, Maria Benedetta Michelazzo, Giovanna Elisa Calabró, Brigid Unim, Marco Di Marco, Walter Ricciardi, Walter Ricciardi, Roberta Pastorino, Stefania Boccia

    Published 2017
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  12. 52
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    Managing Pregnant Women with Hemophilia and von Willebrand Disease: How Do We Provide Optimum Care and Prevent Complications? by Janbain M, Kouides P

    Published 2022
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  13. 53
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    Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease by Ekaterina S. Matros, Alena I. Karitskaya

    Published 2023
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  14. 54
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    Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series by Saba Sheikhbahaei, Roya Sherkat, Nadezhda Camacho-Ordonez, Razie Khoshnevisan, Asadollah Kalantari, Mansour Salehi, Seyed Saman Nazemian, Mohammad Hossein Nasr-esfahani, Christophe Klein

    Published 2018
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  15. 55
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    Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study by Nodira M. Normuradova, Odil A. Khujakulov, Mahliyo Sh. Ergasheva, Eshdavlat R. Ollanazarov, Bekhruz B. Majidov

    Published 2022
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  16. 56
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    Diagnostic difficulties and possibilities of NF1-like syndromes in childhood by Eva Pinti, Krisztina Nemeth, Krisztina Staub, Anna Lengyel, Gyorgy Fekete, Iren Haltrich

    Published 2021
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  17. 57
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    Therapeutic Drug Monitoring and Pharmacogenetic Testing as Guides to Psychotropic Drug Dose Adjustment: An Observational Study by Elodie Cuvelier, Houda Khazri, Cloé Lecluse, Benjamin Hennart, Ali Amad, Jean Roche, Michel Tod, Guillaume Vaiva, Olivier Cottencin, Pascal Odou, Delphine Allorge, Bertrand Décaudin, Nicolas Simon

    Published 2023
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  18. 58
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    <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case by Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova

    Published 2023
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  19. 59
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    Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder by Marielle B. Plug, Vivian van Wijngaarden, Hester de Wilde, Ellen van Binsbergen, Inge Stegeman, Inge Stegeman, Inge Stegeman, Marie-José H. van den Boogaard, Adriana L. Smit, Adriana L. Smit, Adriana L. Smit

    Published 2021
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  20. 60
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    Prenatal diagnosis of Noonan syndrome in a set of monozygotic twins- a case report by Wei Jian, Huizhen Yuan, Yu Liu, Jimei Sun, Fei Chen, Yufan Li, Min Chen

    Published 2023
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