Faculty Opinions recommendation of SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.

2014 ◽  
Author(s):  
Yanmin Yang ◽  
Huong Ha
Keyword(s):  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome

scholarly journals Unilateral Opercular Polymicrogyria in a Girl with 22q13 Deletion Syndrome

2017 ◽  
Vol 2 (2) ◽  
pp. 1-7
Author(s):  
Papetti L ◽  
Ursitti F ◽  
Pimpolari L ◽  
Nicita F ◽  
Novelli A ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome

22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

2004 ◽  
Vol 43 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Joaquim M. Havens ◽  
Jeannie Visootsak ◽  
Mary C. Phelan ◽  
John M. Graham
Keyword(s):  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark???Baraitser syndrome

2005 ◽  
Vol 14 (3) ◽  
pp. 127-132 ◽  
Author(s):  
Elisabetta Tabolacci ◽  
Marcella Zollino ◽  
Rosetta Lecce ◽  
Eugenio Sangiorgi ◽  
Fiorella Gurrieri ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: A previously unreported association

2008 ◽  
Vol 40 (10) ◽  
pp. A105-A106
Author(s):  
M. Tufano ◽  
C. Della Corte ◽  
F. Cirillo ◽  
A. Vicinanza ◽  
A.M. Salzano ◽  
...  
Keyword(s):  
Autoimmune Hepatitis ◽  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

2009 ◽  
Vol 75 (2) ◽  
pp. 175-179 ◽  
Author(s):  
A-M Bisgaard ◽  
M Kirchhoff ◽  
JE Nielsen ◽  
M Kibaek ◽  
A Lund ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Deletion Syndrome ◽  
Chromosomal Deletion ◽  
22Q13 Deletion Syndrome

scholarly journals 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Laura Ponson ◽  
Marie Gomot ◽  
Romuald Blanc ◽  
Catherine Barthelemy ◽  
Sylvie Roux ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Communication Disorder ◽  
22Q13 Deletion Syndrome

22q13 deletion syndrome with central diabetes insipidus: a previously unreported association

2004 ◽  
Vol 13 (3) ◽  
pp. 191-194 ◽  
Author(s):  
Amin J. Barakat ◽  
Phillip L. Pearl ◽  
Maria T. Acosta ◽  
Beatriz P. Runkle
Keyword(s):  
Diabetes Insipidus ◽  
Central Diabetes Insipidus ◽  
Deletion Syndrome ◽  
22Q13 Deletion Syndrome
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