scholarly journals Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

2021 ◽  
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Hong Wu ◽  
Songtian Che ◽  
Shuchun Li ◽  
Yan Cheng ◽  
Jun Xiao ◽  
...  
Keyword(s):  
Case Report ◽  
Molecular Diagnosis ◽  
Stickler Syndrome

Primitive neuroectodermal tumor/Ewing’s sarcoma of the urinary bladder: a case report and its molecular diagnosis

2010 ◽  
Vol 16 (4) ◽  
pp. 435-438 ◽  
Author(s):  
Yohei Okada ◽  
Shigeyoshi Kamata ◽  
Takumi Akashi ◽  
Morihito Kurata ◽  
Takuro Nakamura ◽  
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Keyword(s):  
Case Report ◽  
Urinary Bladder ◽  
Molecular Diagnosis ◽  
Primitive Neuroectodermal Tumor ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
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scholarly journals Clinical and Molecular diagnosis of Nager syndrome in a preterm Infant (27 week gestation) – A case report

2000 ◽  
Vol 2 (1) ◽  
pp. 75-75
Author(s):  
M N Ahmed ◽  
W Smith ◽  
D D Koeberl ◽  
M Qumsiyeh ◽  
B Lee ◽  
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Keyword(s):  
Case Report ◽  
Preterm Infant ◽  
Molecular Diagnosis ◽  
Nager Syndrome

scholarly journals Case Report: First Molecular Diagnosis of Liver Abscesses Due to Fasciola hepatica Acute Infection Imported from Vietnam

2020 ◽  
Vol 102 (1) ◽  
pp. 106-109 ◽  
Author(s):  
Coralie L’Ollivier ◽  
Carole Eldin ◽  
Emilie Lambourg ◽  
Philippe Brouqui ◽  
Jean Christophe Lagier
Keyword(s):  
Case Report ◽  
Molecular Diagnosis ◽  
Fasciola Hepatica ◽  
Acute Infection ◽  
Liver Abscesses

scholarly journals Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
N. Riise ◽  
B. R. Lindberg ◽  
M. A. Kulseth ◽  
S. O. Fredwall ◽  
R. Lundby ◽  
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Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Stickler Syndrome ◽  
Larsen Syndrome
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