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Tijdschrift Voor Kindergeneeskunde
|
December 1, 1992
[Carrier detection in cystic fibrosis. Various illustrative examples]
H Y Kroes, H Scheffer, L P ten Kate
Clinical Genetics
|
April 16, 2003
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
H Y Kroes, G Pals, A J van Essen
Journal of Medical Genetics
|
February 1, 1994
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)
H Y Kroes, J H Tuerlings, R Hordijk, et al.
Prenatal Diagnosis
|
February 16, 2005
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences
J M de Pater, H Y Kroes, M Verschuren, et al.
Neuropediatrics
|
June 10, 2005
Mitochondrial dysfunction in a patient with Joubert syndrome
E Morava, A Dinopoulos, H Y Kroes, et al.
American Journal of Medical Genetics
|
October 12, 2002
Two cases of the caudal duplication anomaly including a discordant monozygotic twin
H Y Kroes, M Takahashi, R J Zijlstra, et al.
American Journal of Human Genetics
|
June 15, 2006
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly
N A Oates, J van Vliet, D L Duffy, et al.
European Journal of Neurology
|
February 2, 2010
The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin
H M Engbers, R A J Nievelstein, R H J M Gooskens, et al.
Nature Genetics
|
September 10, 1998
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy
S Rust, M Walter, H Funke, et al.
European Journal of Medical Genetics
|
June 24, 2017
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
E Overwater, K Floor, D van Beek, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Tijdschrift Voor Kindergeneeskunde
|
December 1, 1992
[Carrier detection in cystic fibrosis. Various illustrative examples]
H Y Kroes, H Scheffer, L P ten Kate
Clinical Genetics
|
April 16, 2003
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
H Y Kroes, G Pals, A J van Essen
Journal of Medical Genetics
|
February 1, 1994
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)
H Y Kroes, J H Tuerlings, R Hordijk, et al.
Prenatal Diagnosis
|
February 16, 2005
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences
J M de Pater, H Y Kroes, M Verschuren, et al.
Neuropediatrics
|
June 10, 2005
Mitochondrial dysfunction in a patient with Joubert syndrome
E Morava, A Dinopoulos, H Y Kroes, et al.
American Journal of Medical Genetics
|
October 12, 2002
Two cases of the caudal duplication anomaly including a discordant monozygotic twin
H Y Kroes, M Takahashi, R J Zijlstra, et al.
American Journal of Human Genetics
|
June 15, 2006
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly
N A Oates, J van Vliet, D L Duffy, et al.
European Journal of Neurology
|
February 2, 2010
The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin
H M Engbers, R A J Nievelstein, R H J M Gooskens, et al.
Nature Genetics
|
September 10, 1998
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy
S Rust, M Walter, H Funke, et al.
European Journal of Medical Genetics
|
June 24, 2017
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
E Overwater, K Floor, D van Beek, et al.
Page
of 1