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Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype. [electronic resource] by
- Ojeda, Diego
- Lakhal, Besma
- Fonseca, Dora Janneth
- Braham, Rim
- Landolsi, Hanène
- Mateus, Heidi Eliana
- Restrepo, Carlos Martín
- Elghezal, Hatem
- Saâd, Ali
- Laissue, Paul
Producer: 20110826
In:
Fertility and sterility vol. 95
Availability: No items available.
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Population data on 15 autosomal STRs in a sample from Colombia. [electronic resource] by
- Sánchez-Diz, Paula
- Acosta, María Amparo
- Fonseca, Dora
- Fernández, Marcela
- Gómez, Yenny
- Jay, Manuela
- Alape, Joseph
- Lareu, María Victoria
- Carracedo, Angel
- Restrepo, Carlos Martín
Producer: 20090713
In:
Forensic science international. Genetics vol. 3
Availability: No items available.
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A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin. [electronic resource] by
- Fonseca, Dora Janeth
- Prada, Carlos Fernando
- Siza, Luz Miriam
- Angel, Diana
- Gomez, Yenny Milena
- Restrepo, Carlos Martin
- Douben, Hannie
- Rivadeneira, Fernando
- de Klein, Annelies
- Laissue, Paul
Producer: 20120604
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients. [electronic resource] by
- Galvez, Jubby Marcela
- Restrepo, Carlos Martin
- Contreras, Nora Constanza
- Alvarado, Clara
- Calderón-Ospina, Carlos-Alberto
- Peña, Nidia
- Cifuentes, Ricardo A
- Duarte, Daniela
- Laissue, Paul
- Fonseca, Dora Janeth
Publication details: Pharmacogenomics and personalized medicine 2018
In:
Pharmacogenomics and personalized medicine vol. 11
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Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. [electronic resource] by
- Ortega-Recalde, Oscar
- Vergara, Jéssica Inés
- Fonseca, Dora Janeth
- Ríos, Xiomara
- Mosquera, Hernando
- Bermúdez, Olga María
- Medina, Claudia Liliana
- Vargas, Clara Inés
- Pallares, Argemiro Enrique
- Restrepo, Carlos Martín
- Laissue, Paul
Producer: 20150128
In:
PloS one vol. 8
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Uveitis and Multiple Sclerosis: Potential Common Causal Mutations. [electronic resource] by
- de-la-Torre, Alejandra
- Silva-Aldana, Claudia T
- Muñoz-Ortiz, Juliana
- Piñeros-Hernández, Laura B
- Otero, Oscar
- Domínguez, Alejandra
- Faciolince, León A
- Arcos-Holzinger, Mauricio
- Mastronardi, Claudio
- Contreras-Bravo, Nora Constanza
- Restrepo, Carlos Martín
- Arcos-Burgos, Mauricio
Producer: 20200406
In:
Molecular neurobiology vol. 56
Availability: No items available.
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CITED2 mutations potentially cause idiopathic premature ovarian failure. [electronic resource] by
- Fonseca, Dora Janeth
- Ojeda, Diego
- Lakhal, Besma
- Braham, Rim
- Eggers, Stefanie
- Turbitt, Erin
- White, Stefan
- Grover, Sonia
- Warne, Garry
- Zacharin, Margaret
- Nevin Lam, Alexandra
- Landolsi, Hanène
- Elghezal, Hatem
- Saâd, Ali
- Restrepo, Carlos Martín
- Fellous, Marc
- Sinclair, Andrew
- Koopman, Peter
- Laissue, Paul
Producer: 20130306
In:
Translational research : the journal of laboratory and clinical medicine vol. 160
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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. [electronic resource] by
- Diggle, Christine P
- Parry, David A
- Logan, Clare V
- Laissue, Paul
- Rivera, Carolina
- Restrepo, Carlos Martín
- Fonseca, Dora J
- Morgan, Joanne E
- Allanore, Yannick
- Fontenay, Michaela
- Wipff, Julien
- Varret, Mathilde
- Gibault, Laure
- Dalantaeva, Nadezhda
- Korbonits, Márta
- Zhou, Bowen
- Yuan, Gang
- Harifi, Ghita
- Cefle, Kivanc
- Palanduz, Sukru
- Akoglu, Hadim
- Zwijnenburg, Petra J
- Lichtenbelt, Klaske D
- Aubry-Rozier, Bérengère
- Superti-Furga, Andrea
- Dallapiccola, Bruno
- Accadia, Maria
- Brancati, Francesco
- Sheridan, Eamonn G
- Taylor, Graham R
- Carr, Ian M
- Johnson, Colin A
- Markham, Alexander F
- Bonthron, David T
Producer: 20121128
In:
Human mutation vol. 33
Availability: No items available.
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