15 results on '"Bakry, Doua"'
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2. Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
3. TP53 Germline Mutations: Genetics of Li–Fraumeni Syndrome
4. High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan
5. TP53 Germline Mutations: Genetics of Li–Fraumeni Syndrome
6. Permanent Neonatal Diabetes Caused by Glucokinase Deficiency: Inborn Error of the Glucose-Insulin Signaling Pathway
7. Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium
8. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome
9. 548 Gastrointestinal (GI) Findings in Patients With Biallelic Mismatch Repair (BMMRD) Gene Deficiency Syndrome: Report From the International Consortium
10. BRAF Mutation and CDKN2A Deletion Define a Clinically Distinct Subgroup of Childhood Secondary High-Grade Glioma
11. Abstract 35: Novel genetic and clinical determinants of Constitutional Mismatch Repair Deficiency syndrome: Report from the CMMRD consortium
12. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
13. Abstract 1435: Phenotype:Genotype correlations of p53 mutation carriers: The 20-year Toronto experience
14. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
15. [NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
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