Immunologic Evaluation of a Netherton's Syndrome Patient with a Novel Mutation

2009 ◽  
Vol 123 (2) ◽  
pp. S90-S90
Author(s):  
A. Kumar ◽  
W.J. Grossman
Keyword(s):  
Novel Mutation ◽  
Syndrome Patient

Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL 2 RG gene

2019 ◽  
Vol 46 (11) ◽  
pp. 1019-1023
Author(s):  
Atsuko Ibusuki ◽  
Takuro Nishikawa ◽  
Tsubasa Hiraki ◽  
Tsubasa Okano ◽  
Kohsuke Imai ◽  
...  
Keyword(s):  
Langerhans Cells ◽  
Novel Mutation ◽  
Omenn Syndrome ◽  
Syndrome Patient

scholarly journals Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Gerarda Cappuccio ◽  
Alessandro Rossi ◽  
Paolo Fontana ◽  
Emma Acampora ◽  
Valeria Avolio ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Kabuki Syndrome ◽  
Syndrome Patient

scholarly journals Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient

2020 ◽  
Vol 8 (7) ◽  
Author(s):  
Maram Arafat ◽  
Atif Zeadna ◽  
Eliahu Levitas ◽  
Iris Har Vardi ◽  
Benzion Samueli ◽  
...  
Keyword(s):  
Sertoli Cell ◽  
Novel Mutation ◽  
Syndrome Patient

scholarly journals A fanconi-bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

2017 ◽  
Vol 59 (6) ◽  
pp. 693 ◽  
Author(s):  
Tuğba Taştemel-Öztürk ◽  
Berrak Bilginer-Gürbüz ◽  
Özlem Tekşam ◽  
Serap Sivri
Keyword(s):  
Situs Inversus ◽  
Novel Mutation ◽  
Situs Inversus Totalis ◽  
Syndrome Patient

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene
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