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Co-authors
(172)
Norberto B. Guelbert
8
Laura E. Larovere
6
Celia J. Angaroni
6
Ana E. Paschini-Capra
5
Carlos E. Argarana (Carlos E. Argaraña)
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Authors
Raquel Dodelson de Kremer
Raquel Dodelson de Kremer,Universidad de Córdoba,Genetics & Genealogy,Molecular Biology,Neuroscience
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Raquel Dodelson de Kremer
Universidad de Córdoba
Publications:
25
|
Citations:
117
Fields:
Genetics & Genealogy
,
Molecular Biology
,
Neuroscience
View FAQ about top research areas and Fields of study
Collaborated with
172 co-authors
from 1992 to 2012
|
Cited by
651 authors
Cumulative
Annual
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Publications
(25)
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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants
Stefania Zampieri
,
Silvia Cattarossi
,
Ana Maria Oller Ramirez
,
Camillo Rosano
,
Charles Marques Lourenco
,
Nadia Passon
,
Isabella Moroni
,
Graziella Uziel
,
Antonella Pettinari
,
Franco Stanzial
,
Raquel Dodelson de Kremer
,
Nydia Beatriz Azar
http://academic.research.microsoft.com/io.ashx?type=5&id=57406684&selfId1=10344188&selfId2=0&maxNumber=12&query=
Journal:
PLOS One
, vol. 7, no. 7, 2012
Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Radhika Sampat
,
Rong Fu
,
Laura E. Larovere
,
Rosa J. Torres
,
Irene Ceballos-Picot
,
Michel Fischbach
,
Raquel de Kremer
,
David J. Schretlen
,
Juan Garcia Puig
,
H. A. Jinnah
Journal:
Human Genetics - HUM GENET
, vol. 129, no. 1, pp. 71-78, 2011
Attenuated variants of Lesch-Nyhan disease
(
Citations: 10
)
H. A. Jinnah
,
I. Ceballos-Picot
,
R. J. Torres
,
J. E. Visser
,
D. J. Schretlen
,
A. Verdu
,
L. E. Larovere
,
C.-J. Chen
,
A. Cossu
,
C.-H. Wu
,
R. Sampat
,
S.-J. Chang
R. D. de Kremer
http://academic.research.microsoft.com/io.ashx?type=5&id=37638417&selfId1=10344188&selfId2=0&maxNumber=12&query=
Journal:
Brain
, vol. 133, no. 3, pp. 671-689, 2010
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
(
Citations: 3
)
Martijn Kranendijk
,
Eduard A. Struys
,
K. Michael Gibson
,
Wjera V. Wickenhagen
,
Jose E. Abdenur
,
Jochen Buechner
,
Ernst Christensen
,
Raquel Dodelson de Kremer
,
Abdellatif Errami
,
Paul Gissen
,
Wanda Gradowska
,
Emma Hobson
http://academic.research.microsoft.com/io.ashx?type=5&id=34040403&selfId1=10344188&selfId2=0&maxNumber=12&query=
Journal:
Human Mutation - HUM MUTAT
, vol. 31, no. 3, pp. 279-283, 2010
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
(
Citations: 1
)
Belén Pérez
,
Celia Angaroni
,
Rocio Sánchez-Alcudia
,
Begoña Merinero
,
Celia Pérez-Cerdá
,
N. Specola
,
P. Rodríguez-Pombo
,
Moacir Wajner
,
Raquel Dodelson de Kremer
,
Verónica Cornejo
,
Lourdes R. Desviat
,
Magdalena Ugarte
Journal:
Journal of Inherited Metabolic Disease - J INHERIT METAB DIS
, vol. 33, no. 4, pp. 307-314, 2010
Sort by:
Citations
(117 times by 105 publications)
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants
Stefania Zampieri
,
Silvia Cattarossi
,
Ana Maria Oller Ramirez
,
Camillo Rosano
,
Charles Marques Lourenco
,
Nadia Passon
,
Isabella Moroni
,
Graziella Uziel
,
Antonella Pettinari
,
Franco Stanzial
,
Raquel Dodelson de Kremer
,
Nydia Beatriz Azar
http://academic.research.microsoft.com/io.ashx?type=5&id=57406684&selfId1=10344188&selfId2=0&maxNumber=12&query=
Journal:
PLOS One
, vol. 7, no. 7, 2012
Novel Mutations in the Human HPRT Gene
(
Citations: 1
)
Khue Vu Nguyen
,
Robert K. Naviaux
,
Kacie K. Paik
,
William L. Nyhan
Journal:
Nucleosides Nucleotides & Nucleic Acids - NUCLEOS NUCLEOT NUCLEIC ACIDS
, vol. 30, no. 6, pp. 440-445, 2011
Melanoma colorrectal: revisión de dos formas diferentes de presentación
Antonio Díaz-Sánchez
,
Miguel Ángel Lara
,
Patricia Ortega
,
Teresa Aramendi
,
Carmen González
,
José M. Alberdi
,
Emilio Del Valle
,
Isabel Casado
,
Rocío Campos
,
Mercedes Aldeguer
Journal:
Gastroenterology
, vol. 34, no. 2, pp. 83-88, 2011
Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Radhika Sampat
,
Rong Fu
,
Laura E. Larovere
,
Rosa J. Torres
,
Irene Ceballos-Picot
,
Michel Fischbach
,
Raquel de Kremer
,
David J. Schretlen
,
Juan Garcia Puig
,
H. A. Jinnah
Journal:
Human Genetics - HUM GENET
, vol. 129, no. 1, pp. 71-78, 2011
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation
Enrique Mencía-Gutiérrez
,
Teresa Gracia-García-Miguel
,
Esperanza Gutiérrez-Díaz
,
Elena López-Tizón
Journal:
International Ophthalmology - INT OPHTHALMOL
, vol. 31, no. 3, pp. 227-232, 2011
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