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Lorda

Showing results (201-210 of 242) with videos related to

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European Journal of Medical Genetics|December 13, 2006
Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletionVictor Martinez-Glez, Isabel Lorda-Sanchez, Jose Manuel Ramirez, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|September 11, 2023
The enduring enigma of sporadic chorea: A single center case seriesPedro J Garcia Ruiz, Lola Diaz Feliz, Cici E Feliz, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosaMaria García-Hoyos, Blanca Garcia-Sandoval, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
New type of mutations in three spanish families with choroideremiaMaria Garcia-Hoyos, Isabel Lorda-Sanchez, Pilar Gómez-Garre, et al.
Plos One|February 24, 2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHFiona Blanco-Kelly, María Palomares, Elena Vallespín, et al.
Clinical Genetics|January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case reportFrancisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.
European Journal of Human Genetics : EJHG|March 14, 2026
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disordersLucía López-López, Laura Lapeña-Gil, Yolanda Benítez, et al.
Scientific Reports|May 11, 2024
Dapagliflozin added to metformin reduces perirenal fat layer in type 2 diabetic patients with obesityGuillem Cuatrecasas, Francisco De Cabo, M José Coves, et al.
Genetic Counseling (Geneva, Switzerland)|August 2, 2002
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadiasI Lorda-Sanchez, R Sanz, M A Diaz-Guillen, et al.
Ophthalmic Genetics|October 18, 2000
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocationI J Lorda-Sanchez, A J Ibañez, R J Sanz, et al.
Pageof 25

Showing results (201-210 of 242) with videos related to

Sort By:
Pageof 25
European Journal of Medical Genetics|December 13, 2006
Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletionVictor Martinez-Glez, Isabel Lorda-Sanchez, Jose Manuel Ramirez, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|September 11, 2023
The enduring enigma of sporadic chorea: A single center case seriesPedro J Garcia Ruiz, Lola Diaz Feliz, Cici E Feliz, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosaMaria García-Hoyos, Blanca Garcia-Sandoval, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
New type of mutations in three spanish families with choroideremiaMaria Garcia-Hoyos, Isabel Lorda-Sanchez, Pilar Gómez-Garre, et al.
Plos One|February 24, 2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHFiona Blanco-Kelly, María Palomares, Elena Vallespín, et al.
Clinical Genetics|January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case reportFrancisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.
European Journal of Human Genetics : EJHG|March 14, 2026
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disordersLucía López-López, Laura Lapeña-Gil, Yolanda Benítez, et al.
Scientific Reports|May 11, 2024
Dapagliflozin added to metformin reduces perirenal fat layer in type 2 diabetic patients with obesityGuillem Cuatrecasas, Francisco De Cabo, M José Coves, et al.
Genetic Counseling (Geneva, Switzerland)|August 2, 2002
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadiasI Lorda-Sanchez, R Sanz, M A Diaz-Guillen, et al.
Ophthalmic Genetics|October 18, 2000
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocationI J Lorda-Sanchez, A J Ibañez, R J Sanz, et al.
Pageof 25