scholarly journals Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

2015 ◽  
Vol 14 (2) ◽  
pp. 4757-4766 ◽  
Author(s):  
D.H. Cao ◽  
K. Mu ◽  
D.N. Liu ◽  
J.L. Sun ◽  
X.Z. Bai ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Compound Heterozygous

Prenatal Diagnosis of Compound Heterozygous Deficiency of Protein C by Direct Detection of the Mutation Sites

1996 ◽  
Vol 76 (02) ◽  
pp. 277-278 ◽  
Author(s):  
Masaru Ido ◽  
Tatsuya Hayashi ◽  
Junji Nishioka ◽  
Masazumi Itoh ◽  
Hiroyuki Minoura ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Direct Detection ◽  
Compound Heterozygous ◽  
Heterozygous Deficiency

Prenatal diagnosis of an epignathus associated with a 49, XXXXY karyotype – a case report

2007 ◽  
Vol 28 (S 1) ◽  
Author(s):  
I Staboulidou ◽  
K Miller ◽  
G Göhring ◽  
P Hillemanns ◽  
M Wüstemann
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis

Mature teratoma splitting the brainstem in a newborn: case report

2019 ◽  
Vol 24 (4) ◽  
pp. 371-375
Author(s):  
Li-tal Pratt ◽  
Shelly I. Shiran ◽  
Ronit Precel ◽  
Liat Ben-Sira ◽  
Gustavo Malinger ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Posterior Fossa ◽  
Mature Teratoma

Mature teratomas (MTs) of the posterior fossa are extremely rare. The authors present a case of a prenatal diagnosis of an MT splitting the brainstem. Representative images as well as the clinical and surgical course are presented. Literature regarding “split brainstem” and MT of the posterior fossa is discussed.

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

scholarly journals Early Lethal Noncompaction Cardiomyopathy in siblings with compound heterozygous RYR2 variants: A Case Report

2021 ◽  
Author(s):  
Jantiene C. Duvekot ◽  
Annette F. Baas ◽  
Catharina M.L. Volker-Touw ◽  
Hennie Bikker ◽  
Christian Schroer ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Noncompaction Cardiomyopathy

P09.07: Prenatal diagnosis of Klippel Trenaunay syndrome: a case report

2010 ◽  
Vol 36 (S1) ◽  
pp. 202-202
Author(s):  
M. Brain Giannotti ◽  
O. Gomez ◽  
N. Masoller ◽  
J. Martinez ◽  
B. Puerto ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Klippel Trenaunay Syndrome
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