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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Response to Riccardi et al
A P M de Brouwer
Experimental Cell Research
|
February 22, 2002
Clofibrate-induced relocation of phosphatidylcholine transfer protein to mitochondria in endothelial cells
A P M de Brouwer, J Westerman, A Kleinnijenhuis, et al.
Biochemistry
|
June 19, 2002
Determination of the stability of the noncovalent phospholipid transfer protein-lipid complex by electrospray time-of-flight mass spectrometry
A P M de Brouwer, C Versluis, J Westerman, et al.
Human Mutation
|
November 16, 2005
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
E Kalay, A Karaguzel, R Caylan, et al.
Journal of Medical Genetics
|
June 3, 2009
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb
J H M Schuurs-Hoeijmakers, S Vermeer, B W M van Bon, et al.
Neurogenetics
|
October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
K Poirier, D Lacombe, B Gilbert-Dussardier, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
E Kalay, A P M de Brouwer, R Caylan, et al.
Clinical Genetics
|
February 8, 2011
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
B W M van Bon, A Hoischen, J Hehir-Kwa, et al.
Journal of Medical Genetics
|
April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, M J G Banning, et al.
Journal of Medical Genetics
|
September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg, A P M de Brouwer, T Kleefstra, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Response to Riccardi et al
A P M de Brouwer
Experimental Cell Research
|
February 22, 2002
Clofibrate-induced relocation of phosphatidylcholine transfer protein to mitochondria in endothelial cells
A P M de Brouwer, J Westerman, A Kleinnijenhuis, et al.
Biochemistry
|
June 19, 2002
Determination of the stability of the noncovalent phospholipid transfer protein-lipid complex by electrospray time-of-flight mass spectrometry
A P M de Brouwer, C Versluis, J Westerman, et al.
Human Mutation
|
November 16, 2005
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
E Kalay, A Karaguzel, R Caylan, et al.
Journal of Medical Genetics
|
June 3, 2009
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb
J H M Schuurs-Hoeijmakers, S Vermeer, B W M van Bon, et al.
Neurogenetics
|
October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
K Poirier, D Lacombe, B Gilbert-Dussardier, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
E Kalay, A P M de Brouwer, R Caylan, et al.
Clinical Genetics
|
February 8, 2011
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
B W M van Bon, A Hoischen, J Hehir-Kwa, et al.
Journal of Medical Genetics
|
April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, M J G Banning, et al.
Journal of Medical Genetics
|
September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg, A P M de Brouwer, T Kleefstra, et al.
Page
of 2