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Publications by Kelly D. Farwell Gonzalez
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child With Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
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Exome Sequencing for the Identification of Mendelian Disease Genes
Erciyes Tip Dergisi
Medicine
The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders
Journal of Human Genetics
Genetics
Effectiveness of Whole-Exome Sequencing and Costs of the Traditional Diagnostic Trajectory in Children With Intellectual Disability
Genetics in Medicine
Medicine
Genetics
Analyzing the Exome Heterogeneity of Cattle Immunity Genes With the Method of Flow-Cell Sequencing
BIO Web of Conferences
Clinical Genome and Exome Sequencing (CGES) in Cancer Diagnostic
Advanced Techniques in Biology & Medicine
The Biochemical Basis of Cobalamin Deficiency
Mayo Clinic Proceedings
Medicine
Cutaneous Hyperpigmentation and Cobalamin Deficiency
British Journal of Haematology
Hematology
The Many Faces of Cobalamin (Vitamin B12) Deficiency
Mayo Clinic Proceedings: Innovations, Quality & Outcomes
Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients With Epilepsy: A Case Series
Journal of Medical Case Reports
Medicine
