A de novo chromosome 9p duplication in a female child with short stature and developmental delay

por Tkemaladze, Tinatin, Bregvadze, Kakha, Papiashvili, Nikoloz, Gagua, Sopio, Abzianidze, Elene
Publicado 2023

Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature

por Kopadze, Saba, Shoshiashvili, Inga, Dumbadze, Anna, Tkemaladze, Tinatin, Kiladze, Ivane
Publicado 2021

First case report of Nager syndrome patient from Georgia

por Tkemaladze, Tinatin, Bregvadze, Kakha, Kvaratskhelia, Eka, Kapoor, Manish Aaryan, Orjonikidze, Nino, Abzianidze, Elene
Publicado 2022

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

por Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Lentze, Michael J., Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Publicado 2022

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease

por Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Rtskhiladze, Irakli, Zaalishvili, Zurab, Nakaidze, Nata, Lentze, Michael J, Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Publicado 2023

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

por Almeida, Ligia S., Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C. L. S., Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M., Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B., Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, Bauer, Peter
Publicado 2022

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022