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Publications by M. Quezado
Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated With Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients With Tarui Disease.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
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Phenotypic Characteristics Associated With the APC Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps
JAMA - Journal of the American Medical Association
Medicine
A Nonsense Mutation (E1978X) in the ATM Gene Is Associated With Breast Cancer
Breast Cancer Research and Treatment
Cancer Research
Oncology
The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa
Pediatric Research
Child Health
Pediatrics
Perinatology
Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease
European Journal of Human Genetics
Genetics
A Founder Mutation in the Ashkenazi Jewish Population Affecting Messenger RNA Splicing of the CCM2 Gene Causes Cerebral Cavernous Malformations
Genetics in Medicine
Medicine
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The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients With Prostate Cancer
American Journal of Human Genetics
Genetics
A Dystroglycan Mutation (p.Cys667Phe) Associated to Muscle-Eye-Brain Disease With Multicystic Leucodystrophy Results in ER-retention of the Mutant Protein
Human Mutation
Genetics
Evaluation of 22 Genetic Variants With Crohn's Disease Risk in the Ashkenazi Jewish Population: A Case-Control Study
BMC Medical Genetics
Genetics
Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
