Suchergebnisse - "Scheffler-Mendoza, Selma C."

PubPharm (22)

1

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity

enthalten in: Journal of Genetics | 2023

von Castano-Jaramillo, L. | Rivas Larrauri, F. | Scheffler-Mendoza, S. | +11

2

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity

enthalten in: Journal of genetics | 2023

von Castano-Jaramillo, L. | Larrauri, F. | Scheffler-Mendoza, S. | +11

3

Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples

enthalten in: AIDS (London, England) | 2022

von Lugo Reyes, S. | Solórzano Suárez, A. | Scheffler Mendoza, S. | +10

CommentIn: AIDS. 2022 Dec 1;36(15):2215-2216. - PMID 36382438

4

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

enthalten in: Science immunology | 2022

von Rae, W. | Sowerby, J. | Verhoeven, D. | +34

5

Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature Review

enthalten in: ResearchSquare.com | 2022

von Vélez-Tirado, N. | Yamazaki-Nakashimada, M. | Valentín, E. | +14

6

Severe congenital neutropenia due to G6PC3 deficiency. Case series of five patients and literature review

enthalten in: ResearchSquare.com | 2022

von Velez-Tirado, N. | Yamazaki-Nakashimada, M. | Valentín, E. | +14

7

Lymphomatoid granulomatosis in a patient with DOCK8 deficiency

enthalten in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology | 2022

von Liquidano-Perez, E. | Alva-Chaire, A. | Yamazaki-Nakashimada, M. | +7

8

Severe congenital neutropenia due to G6PC3 deficiency : Case series of five patients and literature review

enthalten in: Scandinavian journal of immunology | 2022

von Velez-Tirado, N. | Yamazaki-Nakashimada, M. | Lopez Valentín, E. | +14

9

Not enough by half : NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility

enthalten in: Frontiers in immunology | 2022

von Lopez-Rivera, D. | Castano-Jaramillo, L. | Yamazaki-Nakashimada, M. | +10

10

Severe congenital neutropenia due to G6PC3 deficiency : Case series of five patients and literature review

enthalten in: Scandinavian Journal of Immunology | 2022

von Velez‐Tirado, N. | Yamazaki‐Nakashimada, M. | Lopez Valentín, E. | +14