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71-80 trong số 112 kết quả
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectru...
Tác giả: María Carolina Sanabria-Salas, Ana Lucía Rivera-Herrera, Julián Riaño-Moreno, Rafael Parra-Medina, Juan Carlos Mejía, Luis G Carvajal-Carmona, María Carolina Manotas, Gonzalo Guevara, Ana Milena Gómez, Vilma Medina, Sandra Tapiero, Antonio Huertas, Marcela Nuñez, Miguel Zamir Torres
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Description and first insights on a large genomic biobank of lung transplantation
Tác giả: Simon Brocard, Martin Morin, Christiane Knoop, Jean-François Mornex, Mathilde Salpin, Véronique Boussaud, Olivia Rousseau, Vincent Mauduit, Axelle Durand, Antoine Magnan, Pierre-Antoine Gourraud, Nicolas Vince, Nayane Dos Santos Brito Silva, Mario Südholt, Adrien Tissot, Sophie Limou, Benjamin Renaud-Picard, Benjamin Coiffard, Xavier Demant, Loïc Falque, Jérome Le Pavec, Antoine Roux, Thomas Villeneuve
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
GLA insufficiency should not be called Fabry disease
Tác giả: Gunnar Houge, Mirjam Langeveld, Joao-Paulo Oliveira
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parent...
Tác giả: Michelle Peter, Melissa Hill, Dagmar Tapon, Sarah L Wynn, Lyn S Chitty, Michael Parker, Jane Fisher, Morgan Daniel, Hannah McInnes-Dean, Rhiannon Mellis, Holly Walton, Caroline Lafarge, Kerry Leeson-Beevers, Sophie Peet
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes
Tác giả: Brendan J Keating
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the ...
Tác giả: Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Tomohiko Ishihara, Osamu Onodera, Yuta Suzuki, Shinichi Morishita, Tatsushi Toda, Shoji Tsuji
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and thera...
Tác giả: Mert Karakaya, Iman Ragab, Boris Decarolis, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Seung Woo Ryu, Go Hun Seo, Marc Hoemberg, Anne Maria Schultheis, Christian Netzer
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophi...
Tác giả: Nathalie Pironon, Artyom Gasparyan, Ignacia Fuentes, Alain Hovnanian, María Joao Yubero, Sabine Duchatelet, Kristina Hovhannesyan, Stephanie Leclerc-Mercier, Natella Kostandyan, Francis Palisson, Tamara Sarkisian, Matthias Titeux
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences
Tác giả: Lara Andreoli, Hilde Peeters, Kristel Van Steen, Kris Dierickx
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood
Tác giả: Niamh R Wilkinson, Elena Cervi, Bart Wagner, Deborah Morris-Rosendahl, Duncan Baker, Harpaul Flora, Kate von Klemperer, Toby Andrew, Neeti Ghali, Fleur S van Dijk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc: 
 

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