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Naegeli syndrome
Known as:
NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME
, NFJ SYNDROME
, NFJS
National Institutes of Health
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Related topics
Related topics
6 relations
Autosomal dominant inheritance
Dental caries
Hypohidrosis
Intolerant of heat
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Broader (1)
Ectodermal Dysplasia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome
D. Ralser
,
S. Kumar
,
+7 authors
R. Betz
British Journal of Dermatology
2020
Corpus ID: 215758405
Naegeli-Franceschetti-Jadassohn syndrome (NFJS; Mendelian Inheritance in Man (MIM) 161000) is a rare, autosomal-dominant…
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2019
2019
Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant
B. Burger
,
I. Spoerri
,
E. Imahorn
,
Hedwig Wariwoda
,
T. Leeb
,
P. Itin
British Journal of Dermatology
2019
Corpus ID: 106410518
Naegeli-Franceschetti-Jadassohn syndrome (NFJS, OMIM #161000) and dermatopathia pigmentosa reticularis (DPR, OMIM #125595) have…
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2014
2014
A Dimerized HMX1 Inhibits EPHA6/epha4b in Mouse and Zebrafish Retinas
Fabienne Marcelli
,
G. Boisset
,
D. Schorderet
PLoS ONE
2014
Corpus ID: 12237045
HMX1 is a homeobox-containing transcription factor implicated in eye development and responsible for the oculo-auricular syndrome…
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2012
2012
Studi Kasus Penerapan Model Konseling Trait and Factor dalam Membantu Mengatasi Siswa Lamban Belajar di Kelas 111 MI NU Thoriqotussa’diyah Colo Tahun Pelajaran 2011/2012
S. Zumaroh
2012
Corpus ID: 190215046
Manusia belajar sejak dari buaian sampai akhir hayatnya atau biasa disebut belajar seumur hidup (life long education). Peristiwa…
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Review
2001
Review
2001
The treatment of acute leukemia: past, present, and future
E. Beutler
Leukemia
2001
Corpus ID: 8265783
Thank you very much, Marshall, for that very generous introduction. I’m going to talk about the past because it is always…
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1972
1972
[Franceschetti symdrome. Case report with a study of the karyotype].
A. Cigolotti
,
C. Gasparini
,
M. Bersi
Minerva Pediatrica
1972
Corpus ID: 37161136
1968
1968
Adolphe Franceschetti, 1896-1968.
Tavistock Square
,
London
,
H. Wc
1968
Corpus ID: 78413176
1968
1968
Adolphe Franceschetti (1896-1968).
M. Critchley
Journal of Neurological Sciences
1968
Corpus ID: 36430945
1968
1968
Adolphe Franceschetti (1896–1968)
L. Bogaert
1968
Corpus ID: 75683233
1957
1957
A Adolphe Franceschetti à l'occasion de son 60e anniversaire
E. Streiff
,
J. Babel
1957
Corpus ID: 176389372
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