scholarly journals De novoSCN1Apathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

Epilepsia ◽  
2017 ◽  
Vol 58 (2) ◽  
pp. e26-e30 ◽  
Author(s):  
Kenneth A. Myers ◽  
Rosemary Burgess ◽  
Zaid Afawi ◽  
John A. Damiano ◽  
Samuel F. Berkovic ◽  
...  
Keyword(s):  
Familial Syndrome

scholarly journals Familial syndrome with panhypopituitarism, hypoplasia of the hypophysis, and poorly developed sella turcica.

1978 ◽  
Vol 53 (8) ◽  
pp. 664-667 ◽  
Author(s):  
P Sipponen ◽  
S Simila ◽  
Y Collan ◽  
T Autere ◽  
R Herva
Keyword(s):  
Sella Turcica ◽  
Familial Syndrome

A Familial Syndrome of Pericarditis, Arthritis, and Camptodactyly

1983 ◽  
Vol 309 (4) ◽  
pp. 224-225 ◽  
Author(s):  
Manuel Martínez-Lavín ◽  
Alfonso Buendía ◽  
Egle Delgado ◽  
Pedro Reyes ◽  
Mary-Carmen Amigo ◽  
...  
Keyword(s):  
Familial Syndrome

A Familial Syndrome of Arterial Dissections with Lentiginosis

1995 ◽  
Vol 332 (9) ◽  
pp. 576-579 ◽  
Author(s):  
Wouter I. Schievink ◽  
Virginia V. Michels ◽  
Bahram Mokri ◽  
David G. Piepgras ◽  
Harold O. Perry
Keyword(s):  
Familial Syndrome

A new familial syndrome with impaired function of three related peptide growth factors

1989 ◽  
Vol 83 (3) ◽  
pp. 209-216 ◽  
Author(s):  
H. -J. Hoepffner ◽  
M. Dreyer ◽  
U. Reimers ◽  
U. Schmidt-Preuss ◽  
H. -P. Koepp ◽  
...  
Keyword(s):  
Growth Factors ◽  
Related Peptide ◽  
Impaired Function ◽  
Familial Syndrome ◽  
Peptide Growth Factors

A familial syndrome of renal, genital, and middle ear anomalies

1968 ◽  
Vol 72 (1) ◽  
pp. 88-93 ◽  
Author(s):  
S.D. Jeremy Winter ◽  
Gertrude Kohn ◽  
William J. Mellman ◽  
Seymour Wagner
Keyword(s):  
Middle Ear ◽  
Familial Syndrome ◽  
Ear Anomalies

A familial syndrome of cranial, facial, oral and limb anomalies

2008 ◽  
Vol 10 (4) ◽  
pp. 226-231 ◽  
Author(s):  
Naomi Fitch ◽  
Sigrid Jequier ◽  
Apostolos Papageorgiou
Keyword(s):  
Limb Anomalies ◽  
Familial Syndrome
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