Khalid A. Fakhro, Ph.D.
Affiliations: | 2011 | Yale University, New Haven, CT |
Area:
Genetics, Human Development, PathologyGoogle:
"Khalid Fakhro"Parents
Sign in to add mentorRichard P. Lifton | grad student | 2011 | Yale | |
(Rare Copy Number Variations in Congenital Heart Disease Patients Identify New Genes in Left-Right Patterning.) |
BETA: Related publications
See more...
Publications
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
Al-Kurbi AA, Aliyev E, AlSa'afin S, et al. (2023) A Complex Intrachromosomal Rearrangement Disrupting in a Family with Popliteal Pterygium and Van der Woude Syndromes. Genes. 14 |
Ahmed I, Ziab M, Da'as S, et al. (2023) Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease. Computational and Structural Biotechnology Journal. 21: 716-730 |
Kohailan M, Al-Saei O, Padmajeya S, et al. (2022) A de novo start-loss in associated with mandibulofacial dysostosis with microcephaly: case report. Cold Spring Harbor Molecular Case Studies. 8 |
Elfatih A, Da'as SI, Abdelrahman D, et al. (2022) Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. Human Molecular Genetics |
Al-Kurbi AA, Da'as SI, Aamer W, et al. (2022) A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. European Journal of Medical Genetics. 65: 104455 |
Selvaraj S, Rodrigues D, Krishnamoorthy N, et al. (2022) Clinical, Genetic and Functional Characterization of a Novel Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal of Personalized Medicine. 12 |
Hassan K, Robay A, Al-Maraghi A, et al. (2021) Novel MYO5B Mutation in Microvillous Inclusion Disease of Syrian Ancestry. Cold Spring Harbor Molecular Case Studies |
Merico D, Pasternak Y, Zarrei M, et al. (2021) Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. Npj Genomic Medicine. 6: 96 |
Guennoun A, Bougarn S, Khan T, et al. (2021) A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes. Journal of Clinical Immunology |
Pagnamenta AT, Kaiyrzhanov R, Zou Y, et al. (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain : a Journal of Neurology |