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scholarly journals Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family

2022 ◽  
Author(s):  
Abdulsamad Wafa ◽  
Belal Ali ◽  
Faten Moassass ◽  
Maged Kheder ◽  
Abdulmunim Aljapawe ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Acute Myeloid

scholarly journals Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

2022 ◽  
Author(s):  
Keri Ramsey ◽  
Newell Belnap ◽  
Anna Bonfitto ◽  
Wayne Jepsen ◽  
Marcus Naymik ◽  
...  
Keyword(s):  
Cerebellar Atrophy

scholarly journals Distribution of RET proto‐oncogene variants in children with appendicitis

2022 ◽  
Author(s):  
Jurek Schultz ◽  
Ines Freibothe ◽  
Michael Haase ◽  
Patrick Glatte ◽  
Gustavo Barreton ◽  
...  

scholarly journals De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

2021 ◽  
Author(s):  
Nuo Si ◽  
Zeya Zhang ◽  
Xin Huang ◽  
Chanchen Wang ◽  
Peipei Guo ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Patients

scholarly journals Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

2021 ◽  
Author(s):  
Limor Kalfon ◽  
Meirav Baydany ◽  
Nadra Samra ◽  
Nawaf Heno ◽  
Zvi Segal ◽  
...  
Keyword(s):  
Genetic Variants
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