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J. Pachlopnik Schmid
J. Pachlopnik Schmid
Boston Children's Hospital
Mutation
Exome sequencing
Immune system
Pathology
Newborn screening
2
Papers
9
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0
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Phenotypical heterogeneity in RAG‐deficient patients from a highly consanguineous population
2019
Clinical and Experimental Immunology
Safa Meshaal
R. El Hawary
D. S. Abd Elaziz
Alia Eldash
Radwa Alkady
Sohilla Lotfy
Andrea A. Mauracher
Lennart Opitz
J. Pachlopnik Schmid
M.E.L. van der Burg
Janet Chou
Nermeen Galal
Jeannette Boutros
Raif S. Geha
Aisha Elmarsafy
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Citations (8)
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
2017
Journal of The European Academy of Dermatology and Venereology
L. Marquardt
M. Lacour
M. Hoernes
Lennart Opitz
R. Lecca
Benjamin Volkmer
Janine Reichenbach
D. Hohl
Marc Ansari
Hulya Ozsahin
Tayfun Güngör
J. Pachlopnik Schmid
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Citations (1)
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