المؤلفون: Anne Munck, Daria O Berger, Kevin W Southern, Carla Carducci, Karin M de Winter-de Groot, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben, Sabine Renner, Max Zeyda, Elke de Wachter, Luc Regal, Felix Votava, Andrea Holubova, Marianne Skov, Tessa Morgan, Paul Bregeaut, Loretta O'Grady, Ines Bucci, Stefano Pantano, Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva SL Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart

المساهمون: Munck A., Berger D. O., Southern K. W., Carducci C., de Winter-de Groot K. M., Gartner S., Kashirskaya N., Linnane B., Proesmans M., Sands D., et al., Growth and Development, Physiotherapy, Human Physiology and Anatomy, Clinical sciences, Pediatrics

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Cystic Fibrosis, carriers, IRT, CFSPID, Sağlık Bilimleri, Clinical Medicine (MED), Cystic fibrosis, Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases, SOLUNUM SİSTEMİ, CFSPID, carriers, Newborn bloodspot screening, PEDIATRICS, CFTR gene analysis, Health Sciences, Klinik Tıp (MED), Chest Diseases and Allergy, Pediatri, Perinatoloji ve Çocuk Sağlığı, PAP, Internal Medicine Sciences, Klinik Tıp, RESPIRATORY SYSTEM, Dahili Tıp Bilimleri, Göğüs Hastalıkları ve Allerji, CLINICAL MEDICINE, CFTR Gene Analysis, CFSPID, Carriers, Doenças Genéticas, Tıp, Newborn Bloodspot Screening, Pediatrics, Perinatology and Child Health, Akciğer ve Solunum Tıbbı, Medicine, PEDİATRİ

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1280e533a22801c54cb7ddf56c1b22d
https://hdl.handle.net/11424/290369

المؤلفون: Munck, Anne, Berger, Daria O, Southern, Kevin W, Carducci, Carla, de Winter-de Groot, Karin M, Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, European CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner, Max Zeyda, Elke de Wachter, Luc Regal, Felix Votava, Andrea Holubova, Marianne Skov, Tessa Morgan, Paul Bregeaut, Loretta O'Grady, Ines Bucci, Stefano Pantano, Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Ma López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva Sl Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart

المساهمون: Anne, Munck, Daria O, Berger, Kevin W, Southern, Carla, Carducci, Karin M, de Winter-de Groot, Silvia, Gartner, Nataliya, Kashirskaya, Barry, Linnane, Marijke, Proesman, Dorota, Sand, Olaf, Sommerburg, Carlo, Castellani, Jürg, Barben, CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner, European, Zeyda, Max, de Wachter, Elke, Regal, Luc, Votava, Felix, Holubova, Andrea, Skov, Marianne, Morgan, Tessa, Bregeaut, Paul, O'Grady, Loretta, Bucci, Ine, Pantano, Stefano, Simonetti, Simonetta, De Venuto, Domenica, Salvatore, Donatello, Perrotti, Nicola, Caloiero, Mimma, Castaldo, Giuseppe, Tosco, Antonella, Righetti, Francesca, Pisi, Giovanna, Battistini, Fiorella, Angeloni, Antonio, Cimino, Giuseppe, Fiocchi, Giovanni, Angiolillo, Antonella, Cassanello, Michela, Alberti, Luisella, E Claut, Laura, Badolato, Raffaele, Pavanello, Enza, Fabrizzi, Benedetta, Bignamini, Elisabetta, Cardillo, Anna, Lombardo, Mariangela, Cocciadiferro, Letizia, Termini, Lisa, Dolce, Daniela, Terlizzi, Vito, Tamanini, Anna, Pauro, Francesca, la Marca, Giancarlo, Aleksejeva, Elina, Gaidule-Logina, Dita, Fustik, Stoika, Anastasovska, Violeta, Bouva, Marelle, Reid, Alastair, Cundick, Jennifer, Lundman, Emma, Bakkeheim, Egil, Zybert, Katarzyna, Oltarzewski, Mariusz, Vilarinho, Laura, Sherman, Victoria, Kondratyeva, Elena, Smith, Sarah, Vilotijevic Dautovic, Gordana, Knapkova, Maria, Mydlova, Zuzana, Ma López, Rosa, Velasco, Valle, Díaz Flores, Felicita, Colón Mejeras, Cristóbal, Sl Pedersen, Eva, Ozcelik, Ugur, Karadag, Bulent, Makukh, Halyna, Stuart, Moat

مصطلحات موضوعية: CFSPID, carrier, CFTR gene analysi, Cystic fibrosi, IRT, Newborn bloodspot screening, PAP

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001018704800001; journal:JOURNAL OF CYSTIC FIBROSIS; https://hdl.handle.net/11695/119127; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141795642

الاتاحة: https://hdl.handle.net/11695/119127
https://doi.org/10.1016/j.jcf.2022.09.012

المؤلفون: Jana Paderova, Jana Drabova, Andrea Holubova, Marketa Vlckova, Marketa Havlovicova, Andrea Gregorova, Radka Pourova, Vera Romankova, Veronika Moslerova, Jan Geryk, Patricia Norambuena, Veronika Krulisova, Anna Krepelova, Milan Macek

المصدر: European Journal of Medical Genetics. 61:315-321

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Genotype, Ubiquitin-Protein Ligases, Nerve Tissue Proteins, Biology, Receptors, N-Methyl-D-Aspartate, Genetic Heterogeneity, 03 medical and health sciences, Intellectual Disability, Genetic variation, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Child, Gene, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Exome sequencing, Chromosomes, Human, Pair 14, Histone Demethylases, Comparative Genomic Hybridization, Genetic heterogeneity, Tumor Suppressor Proteins, High-Throughput Nucleotide Sequencing, Nuclear Proteins, General Medicine, Peptide Elongation Factors, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, Vestibular Diseases, Child, Preschool, Face, Female, Kabuki syndrome, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9edade7f30807c6ec163586eaf687f
https://doi.org/10.1016/j.ejmg.2018.01.005