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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling. [electronic resource] by
- Rivière, Jacques G
- Franco-Jarava, Clara
- Martínez-Gallo, Mónica
- Aguiló-Cucurull, Aina
- Blasco-Pérez, Laura
- Paramonov, Ida
- Antolín, María
- Martín-Nalda, Andrea
- Soler-Palacín, Pere
- Colobran, Roger
Producer: 20210223
In:
Frontiers in immunology vol. 11
Availability: No items available.
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8.
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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. [electronic resource] by
- Soler-Palacín, Pere
- Garcia-Prat, Marina
- Martín-Nalda, Andrea
- Franco-Jarava, Clara
- Rivière, Jacques G
- Plaja, Alberto
- Bezdan, Daniela
- Bosio, Mattia
- Martínez-Gallo, Mónica
- Ossowski, Stephan
- Colobran, Roger
Producer: 20191002
In:
Frontiers in immunology vol. 9
Availability: No items available.
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9.
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Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies. [electronic resource] by
- Ridao-Manonellas, Saida
- Fábregas-Bofill, Anna
- Núñez-Rueda, Gloria
- González-Amores, Míriam
- García-Prat, Marina
- López-Seguer, Laura
- Rivière, Jacques G
- Martín-Nalda, Andrea
- Mendoza-Palomar, Natalia
- Melendo-Pérez, Susana
- Soler-Palacín, Pere
Producer: 20210806
In:
Journal of clinical immunology vol. 40
Availability: No items available.
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10.
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First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain). [electronic resource] by
- Argudo-Ramírez, Ana
- Martín-Nalda, Andrea
- Marín-Soria, Jose L
- López-Galera, Rosa M
- Pajares-García, Sonia
- González de Aledo-Castillo, Jose M
- Martínez-Gallo, Mónica
- García-Prat, Marina
- Colobran, Roger
- Riviere, Jacques G
- Quintero, Yania
- Collado, Tatiana
- García-Villoria, Judit
- Ribes, Antonia
- Soler-Palacín, Pere
Producer: 20200911
In:
Frontiers in immunology vol. 10
Availability: No items available.
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11.
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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings. [electronic resource] by
- Rudilla, Francesc
- Franco-Jarava, Clara
- Martínez-Gallo, Mónica
- Garcia-Prat, Marina
- Martín-Nalda, Andrea
- Rivière, Jacques
- Aguiló-Cucurull, Aina
- Mongay, Laura
- Vidal, Francisco
- Solanich, Xavier
- Irastorza, Iñaki
- Santos-Pérez, Juan Luis
- Tercedor Sánchez, Jesús
- Cuscó, Ivon
- Serra, Clara
- Baz-Redón, Noelia
- Fernández-Cancio, Mónica
- Carreras, Carmen
- Vagace, José Manuel
- Garcia-Patos, Vicenç
- Pujol-Borrell, Ricardo
- Soler-Palacín, Pere
- Colobran, Roger
Producer: 20201030
In:
Frontiers in immunology vol. 10
Availability: No items available.
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12.
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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. [electronic resource] by
- Tesch, Victoria Katharina
- Abolhassani, Hassan
- Shadur, Bella
- Zobel, Joachim
- Mareika, Yuliya
- Sharapova, Svetlana
- Karakoc-Aydiner, Elif
- Rivière, Jacques G
- Garcia-Prat, Marina
- Moes, Nicolette
- Haerynck, Filomeen
- Gonzales-Granado, Luis I
- Santos Pérez, Juan Luis
- Mukhina, Anna
- Shcherbina, Anna
- Aghamohammadi, Asghar
- Hammarström, Lennart
- Dogu, Figen
- Haskologlu, Sule
- İkincioğulları, Aydan I
- Köstel Bal, Sevgi
- Baris, Safa
- Kilic, Sara Sebnem
- Karaca, Neslihan Edeer
- Kutukculer, Necil
- Girschick, Hermann
- Kolios, Antonios
- Keles, Sevgi
- Uygun, Vedat
- Stepensky, Polina
- Worth, Austen
- van Montfrans, Joris M
- Peters, Anke M J
- Meyts, Isabelle
- Adeli, Mehdi
- Marzollo, Antonio
- Padem, Nurcicek
- Khojah, Amer M
- Chavoshzadeh, Zahra
- Avbelj Stefanija, Magdalena
- Bakhtiar, Shahrzad
- Florkin, Benoit
- Meeths, Marie
- Gamez, Laura
- Grimbacher, Bodo
- Seppänen, Mikko R J
- Lankester, Arjan
- Gennery, Andrew R
- Seidel, Markus G
Producer: 20210215
In:
The Journal of allergy and clinical immunology vol. 145
Availability: No items available.
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