| 1 | Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion | Coautor: Valdés-Miranda J.M., León-Madero L.F., Fregoso-Ron C.H., De León-Carbajal J.C. | 2024 | Molecular Genetics & Genomic Medicine | WoS-id: 001226457000001
Scopus-id: 2-s2.0-85193675816
| 1 | 2 |
| 2 | Partial trisomy 15q21.2-q26.3 and partial deletion Xp22.33-p11.4 3p in a female patient with amenorrhea and normal intelligence | Coautor: Valdes-Miranda, J., Rivera-Vega, M., Gonzalez-Huerta, L., Perez-Cabrera, A., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604170
| 0 | 0 |
| 3 | Trisomy 4q22.3-q35.2 in a patient with additional material in 16q24 due to a de novo chromosomal rearrangement | Coautor: Valdes-Miranda, J., Gonzalez-Huerta, L., Rivera-Vega, M., Perez-Cabrera, A., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312604171
| 0 | 0 |
| 4 | Identification of POUBF4 gene deletion in two Mexican families with hearing impairment through MLPA | Coautor: Valdes-Miranda, J., Martinez-Saucedo, M., Rivera-Vega, M., Gonzalez-Huerta, L., et al. | 2018 | EUROPEAN JOURNAL OF HUMAN GENETICS | WoS-id: 000489312607067
| 0 | 0 |
| 5 | A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism | Coautor: Valdes-Miranda J.M., RiveraVega, MD, Gómez-Del Angel L.A., Pérez-Cabrera A., et al. | 2015 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000356612500001
Scopus-id: 2-s2.0-84931957458
| 4 | 4 |
| 6 | Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q | 2ᵒ autor: Valdés-Miranda J.M., Martín-De Saro M.D., Plaza-Benhumea L., Pérez-Cabrera A., et al. | 2015 | CYTOGENETIC AND GENOME RESEARCH | WoS-id: 000372517600006
Scopus-id: 2-s2.0-84959180804
| 4 | 5 |
| 7 | Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis | 2ᵒ autor: Valdes-Miranda J.M., Plaza-Benhumea L., Toral-López J., Pérez-Cabrera A., et al. | 2014 | BRITISH JOURNAL OF DERMATOLOGY | WoS-id: 000347236100219
Scopus-id: 2-s2.0-84919459391
| 5 | 5 |
| 8 | An Intellectually Disabled Patient With the 5q14.3q15 Microdeletion Syndrome Associated With an Apparently De Novo t(2;5)(q13;q14) | Coautor: Valdes-Miranda, JM, Toral-Lopez, J, Buentello-Volante, B, Balderas-Minor, MM, et al. | 2012 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000302544200041
Scopus-id: 2-s2.0-84858997214
| 7 | 7 |
| 9 | Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families | Coautor: Valdes-Miranda, JM, Pacheco-Cuellar, G, Gonzalez-Huerta, LM, Pelaez-Gonzalez, H, et al. | 2011 | JOURNAL OF NEUROLOGY | WoS-id: 000295534400022
Scopus-id: 2-s2.0-80054733556
| 13 | 12 |
| 10 | Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation | 2ᵒ autor: Valdes-Miranda, JM, Gonzalez-Huerta, NC, Perez-Cabrera, A, Pacheco-Cuellar, G, et al. | 2010 | JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | WoS-id: 000279865300020
Scopus-id: 2-s2.0-77953641920
| 7 | 7 |
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