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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. [electronic resource] by
- Hirata, Yasuko
- Brems, Hilde
- Suzuki, Mayu
- Kanamori, Mitsuhiro
- Okada, Masahiro
- Morita, Rimpei
- Llano-Rivas, Isabel
- Ose, Toyoyuki
- Messiaen, Ludwine
- Legius, Eric
- Yoshimura, Akihiko
Producer: 20160706
In:
The Journal of biological chemistry vol. 291
Availability: No items available.
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11.
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Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser. [electronic resource] by
- Martín-Salces, Mónica
- Venceslá, Adoración
- Alvárez-Román, María Teresa
- Rivas, Isabel
- Fernandez, Ihosvany
- Butta, Nora
- Baena, Manel
- Fuentes-Prior, Pablo
- Tizzano, Eduardo F
- Jiménez-Yuste, Víctor
Producer: 20110511
In:
Thrombosis and haemostasis vol. 104
Availability: No items available.
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12.
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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. [electronic resource] by
- Pangrazio, Alessandra
- Puddu, Alessandro
- Oppo, Manuela
- Valentini, Maria
- Zammataro, Luca
- Vellodi, Ashok
- Gener, Blanca
- Llano-Rivas, Isabel
- Raza, Jamal
- Atta, Irum
- Vezzoni, Paolo
- Superti-Furga, Andrea
- Villa, Anna
- Sobacchi, Cristina
Producer: 20140909
In:
Bone vol. 59
Availability: No items available.
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13.
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Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate. [electronic resource] by
- Herzberg, Ibi
- Valencia-Duarte, Ana Victoria
- Kay, Victoria A
- White, Daniel J
- Müller, Heike
- Rivas, Isabel C
- Mesa, Sandra Catalina
- Cuartas, Mauricio
- García, Jharley
- Bedoya, Gabriel
- Cornejo, William
- Ruiz-Linares, Andrés
- Kremeyer, Barbara
Producer: 20101104
In:
Psychiatric genetics vol. 20
Availability: No items available.
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14.
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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. [electronic resource] by
- Bullich, Gemma
- Domingo-Gallego, Andrea
- Vargas, Iván
- Ruiz, Patricia
- Lorente-Grandoso, Laura
- Furlano, Mónica
- Fraga, Gloria
- Madrid, Álvaro
- Ariceta, Gema
- Borregán, Mar
- Piñero-Fernández, Juan Alberto
- Rodríguez-Peña, Lidia
- Ballesta-Martínez, Maria Juliana
- Llano-Rivas, Isabel
- Meñica, Mireia Aguirre
- Ballarín, José
- Torrents, David
- Torra, Roser
- Ars, Elisabet
Producer: 20190528
In:
Kidney international vol. 94
Availability: No items available.
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15.
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. [electronic resource] by
- Calmels, Nadège
- Greff, Géraldine
- Obringer, Cathy
- Kempf, Nadine
- Gasnier, Claire
- Tarabeux, Julien
- Miguet, Marguerite
- Baujat, Geneviève
- Bessis, Didier
- Bretones, Patricia
- Cavau, Anne
- Digeon, Béatrice
- Doco-Fenzy, Martine
- Doray, Bérénice
- Feillet, François
- Gardeazabal, Jesus
- Gener, Blanca
- Julia, Sophie
- Llano-Rivas, Isabel
- Mazur, Artur
- Michot, Caroline
- Renaldo-Robin, Florence
- Rossi, Massimiliano
- Sabouraud, Pascal
- Keren, Boris
- Depienne, Christel
- Muller, Jean
- Mandel, Jean-Louis
- Laugel, Vincent
Producer: 20160930
In:
Orphanet journal of rare diseases vol. 11
Availability: No items available.
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16.
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CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. [electronic resource] by
- Nag, Abhishek
- Bochukova, Elena G
- Kremeyer, Barbara
- Campbell, Desmond D
- Muller, Heike
- Valencia-Duarte, Ana V
- Cardona, Julio
- Rivas, Isabel C
- Mesa, Sandra C
- Cuartas, Mauricio
- Garcia, Jharley
- Bedoya, Gabriel
- Cornejo, William
- Herrera, Luis D
- Romero, Roxana
- Fournier, Eduardo
- Reus, Victor I
- Lowe, Thomas L
- Farooqi, I Sadaf
- Mathews, Carol A
- McGrath, Lauren M
- Yu, Dongmei
- Cook, Ed
- Wang, Kai
- Scharf, Jeremiah M
- Pauls, David L
- Freimer, Nelson B
- Plagnol, Vincent
- Ruiz-Linares, Andrés
Producer: 20130911
In:
PloS one vol. 8
Availability: No items available.
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17.
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. [electronic resource] by
- Salpietro, Vincenzo
- Malintan, Nancy T
- Llano-Rivas, Isabel
- Spaeth, Christine G
- Efthymiou, Stephanie
- Striano, Pasquale
- Vandrovcova, Jana
- Cutrupi, Maria C
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Bello, Oscar D
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
- Alkhawaja, Mariam
- Sultan, Tipu
- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E
- Macaya, Alfons
- Kullmann, Dimitri M
- Rothman, James E
- Krishnakumar, Shyam S
- Houlden, Henry
Producer: 20200203
In:
American journal of human genetics vol. 104
Availability: No items available.
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18.
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. [electronic resource] by
- Sentchordi-Montané, Lucía
- Benito-Sanz, Sara
- Aza-Carmona, Miriam
- Pereda, Arrate
- Parrón-Pajares, Manuel
- de la Torre, Carolina
- Vasques, Gabriela A
- Funari, Mariana F A
- Travessa, André M
- Dias, Patrícia
- Suarez-Ortega, Larisa
- González-Buitrago, Jesús
- Portillo-Najera, Nancy Elizabeth
- Llano-Rivas, Isabel
- Martín-Frías, María
- Ramírez-Fernández, Joaquín
- Sánchez Del Pozo, Jaime
- Garzón-Lorenzo, Lucía
- Martos-Moreno, Gabriel A
- Alfaro-Iznaola, Cristina
- Mulero-Collantes, Inés
- Ruiz-Ocaña, Pablo
- Casano-Sancho, Paula
- Portela, Ana
- Ruiz-Pérez, Lorea
- Del Pozo, Angela
- Vallespín, Elena
- Solís, Mario
- Lerario, Antônio M
- González-Casado, Isabel
- Ros-Pérez, Purificación
- Pérez de Nanclares, Guiomar
- Jorge, Alexander A L
- Heath, Karen E
Producer: 20210208
In:
The Journal of clinical endocrinology and metabolism vol. 105
Availability: No items available.
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19.
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. [electronic resource] by
- Rojnueangnit, Kitiwan
- Xie, Jing
- Gomes, Alicia
- Sharp, Angela
- Callens, Tom
- Chen, Yunjia
- Liu, Ying
- Cochran, Meagan
- Abbott, Mary-Alice
- Atkin, Joan
- Babovic-Vuksanovic, Dusica
- Barnett, Christopher P
- Crenshaw, Melissa
- Bartholomew, Dennis W
- Basel, Lina
- Bellus, Gary
- Ben-Shachar, Shay
- Bialer, Martin G
- Bick, David
- Blumberg, Bruce
- Cortes, Fanny
- David, Karen L
- Destree, Anne
- Duat-Rodriguez, Anna
- Earl, Dawn
- Escobar, Luis
- Eswara, Marthanda
- Ezquieta, Begona
- Frayling, Ian M
- Frydman, Moshe
- Gardner, Kathy
- Gripp, Karen W
- Hernández-Chico, Concepcion
- Heyrman, Kurt
- Ibrahim, Jennifer
- Janssens, Sandra
- Keena, Beth A
- Llano-Rivas, Isabel
- Leppig, Kathy
- McDonald, Marie
- Misra, Vinod K
- Mulbury, Jennifer
- Narayanan, Vinodh
- Orenstein, Naama
- Galvin-Parton, Patricia
- Pedro, Helio
- Pivnick, Eniko K
- Powell, Cynthia M
- Randolph, Linda
- Raskin, Salmo
- Rosell, Jordi
- Rubin, Karol
- Seashore, Margretta
- Schaaf, Christian P
- Scheuerle, Angela
- Schultz, Meredith
- Schorry, Elizabeth
- Schnur, Rhonda
- Siqveland, Elizabeth
- Tkachuk, Amanda
- Tonsgard, James
- Upadhyaya, Meena
- Verma, Ishwar C
- Wallace, Stephanie
- Williams, Charles
- Zackai, Elaine
- Zonana, Jonathan
- Lazaro, Conxi
- Claes, Kathleen
- Korf, Bruce
- Martin, Yolanda
- Legius, Eric
- Messiaen, Ludwine
Producer: 20160726
In:
Human mutation vol. 36
Availability: No items available.
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20.
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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. [electronic resource] by
- Ochoa, Juan Pablo
- Sabater-Molina, María
- García-Pinilla, José Manuel
- Mogensen, Jens
- Restrepo-Córdoba, Alejandra
- Palomino-Doza, Julián
- Villacorta, Eduardo
- Martinez-Moreno, Marina
- Ramos-Maqueda, Javier
- Zorio, Esther
- Peña-Peña, Maria L
- García-Granja, Pablo E
- Rodríguez-Palomares, José F
- Cárdenas-Reyes, Ivonne J
- de la Torre-Carpente, María M
- Bautista-Pavés, Alicia
- Akhtar, Mohammed M
- Cicerchia, Marcos N
- Bilbao-Quesada, Raquel
- Mogollón-Jimenez, Maria Victoria
- Salazar-Mendiguchía, Joel
- Mesa Latorre, José M
- Arnaez, Blanca
- Olavarri-Miguel, Ivan
- Fuentes-Cañamero, María E
- Lamounier, Arsonval
- Pérez Ruiz, José María
- Climent-Payá, Vicente
- Pérez-Sanchez, Inmaculada
- Trujillo-Quintero, Juan P
- Lopes, Luis R
- Repáraz-Andrade, Alfredo
- Marín-Iglesias, Rosario
- Rodriguez-Vilela, Alejandro
- Sandín-Fuentes, María
- Garrote, Jose A
- Cortel-Fuster, Alejandro
- Lopez-Garrido, Miguel
- Fontalba-Romero, Ana
- Ripoll-Vera, Tomás
- Llano-Rivas, Isabel
- Fernandez-Fernandez, Xusto
- Isidoro-García, María
- Garcia-Giustiniani, Diego
- Barriales-Villa, Roberto
- Ortiz-Genga, Martín
- García-Pavía, Pablo
- Elliott, Perry M
- Gimeno, Juan R
- Monserrat, Lorenzo
Producer: 20190912
In:
Journal of the American College of Cardiology vol. 72
Availability: No items available.
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