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Martínez-Frías, María Luisa
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1

Deep Phenotyping and Genetic Characterization of a Cohort o..:

Nevado, Julián ; Bel-Fenellós, Cristina ; Sandoval-Talamantes, Ana Karen...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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2

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Corre..:

Campos-Sanchez, Elena ; Deleyto-Seldas, Nerea ; Dominguez, Veronica...
Cell Reports.  19 (2017)  8 - p. 1586-1601 , 2017
Link: https://doi.org/10.1016/..
 
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3

European Recommendations for Primary Prevention of Congenit..:

Taruscio, Domenica ; Arriola, Larraitz ; Baldi, Francesca...
Public Health Genomics.  17 (2014)  2 - p. 115-123 , 2014
Link: https://www.jstor.org/st..
 
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4

Prevention, Diagnosis and Services:

, In: Rare Diseases Epidemiology; Advances in Experimental Medicine and Biology,
Bermejo, Eva ; Martínez-Frías, María Luisa - p. 55-75 , 2010
Link: https://doi.org/10.1007/..
 
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5

Four small supernumerary marker chromosomes derived from ch..:

Fernández-Toral, Joaquín ; Rodríguez, Laura ; Plasencia, Ana...
Journal of Medical Case Reports.  4 (2010)  1 - p. , 2010
Link: https://doi.org/10.1186/..
 
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6

Epidemiological and clinical analysis of a consecutive seri..:

Martínez-Frías, María Luisa ; Bermejo, Eva ; Mendioroz, Jacobo...
Journal of Pediatric Surgery.  44 (2009)  4 - p. 811-820 , 2009
Link: https://doi.org/10.1016/..
 
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7

Preferential Associations between Oral Clefts and Other Maj..:

Rittler, Monica ; López-Camelo, Jorge S. ; Castilla, Eduardo E....
The Cleft Palate-Craniofacial Journal.  45 (2008)  5 - p. 525-532 , 2008
Link: https://doi.org/10.1597/..
 
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8

Infrequently studied congenital anomalies as clues to the d..:

Frías, Jaime L. ; Frías, Juan P. ; Frías, Patricio A..
American Journal of Medical Genetics Part A.  143A (2007)  24 - p. 2904-2909 , 2007
Link: https://doi.org/10.1002/..
 
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9

Pilot Study of Socioeconomic Class, Nutrition and Birth Def..:

Rouhani, Panta ; Fleming, Lora E. ; Frías, Jaime...
Maternal and Child Health Journal.  11 (2007)  4 - p. 403-405 , 2007
Link: https://doi.org/10.1007/..
 
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10

Mutations in genes encoding ribonuclease H2 subunits cause ..:

Crow, Yanick J ; Leitch, Andrea ; Hayward, Bruce E...
Nature Genetics.  38 (2006)  8 - p. 910-916 , 2006
Link: https://doi.org/10.1038/..
 
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11

Probable identity-by-descent for a mutation in the Dyggve-M..:

Pogue, Robert ; Ehtesham, Nadia ; Repetto, Gabriela M....
American Journal of Medical Genetics Part A.  138A (2005)  1 - p. 75-78 , 2005
Link: https://doi.org/10.1002/..
 
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12

Pure partial trisomy 7q: Two new patients and review:

Rodríguez, Laura ; López, Fermina ; Paisán, Luis...
American Journal of Medical Genetics.  113 (2002)  2 - p. 218-224 , 2002
Link: https://doi.org/10.1002/..
 
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13

Infants of diabetic mothers are at increased risk for the o..:

Wang, Raymond ; Martínez-Frías, Maria Luísa ; Graham Jr, John M.
The Journal of Pediatrics.  141 (2002)  5 - p. 611-617 , 2002
Link: https://doi.org/10.1067/..
 
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14

Are blastogenetic anomalies sporadic?:

Martínez-Frías, María Luisa ; Frías, Jaime L.
American Journal of Medical Genetics.  68 (1997)  4 - p. 381-385 , 1997
Link: https://doi.org/10.1002/..
 
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15

The spectrum of congenital anomalies of the VATER associati..:

Botto, Lorenzo D. ; Khoury, Muin J. ; Mastroiacovo, Pierpaolo...
American Journal of Medical Genetics.  71 (1997)  1 - p. 8-15 , 1997
Link: https://doi.org/10.1002/..
 
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