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American Journal of Human Genetics
|
April 1, 1997
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
L A Schimmenti, H E Cunliffe, L A McNoe, et al.
Journal of Medical Genetics
|
February 24, 2006
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
B Menten, N Maas, B Thienpont, et al.
Journal of Medical Genetics
|
June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F D Hannes, A J Sharp, H C Mefford, et al.
Human Mutation
|
October 16, 2007
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
B L Callewaert, A Willaert, W S Kerstjens-Frederikse, et al.
American Journal of Human Genetics
|
February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
J Kohlhase, P E Taschner, P Burfeind, et al.
Human Molecular Genetics
|
July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
E De Baere, M J Dixon, K W Small, et al.
Journal of Dental Research
|
November 12, 2016
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing
K D Khandelwal, N Ishorst, H Zhou, et al.
Molecular Syndromology
|
November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L Desmyter, M Ghassibe, N Revencu, et al.
American Journal of Human Genetics
|
December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
H J Lüdecke, J Schaper, P Meinecke, et al.
Molecular Psychiatry
|
February 4, 2015
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, S A Haas, J Chelly, et al.
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of 23
Search research articles
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Showing results (221-230 of 230) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 230 results.
American Journal of Human Genetics
|
April 1, 1997
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
L A Schimmenti, H E Cunliffe, L A McNoe, et al.
Journal of Medical Genetics
|
February 24, 2006
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
B Menten, N Maas, B Thienpont, et al.
Journal of Medical Genetics
|
June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F D Hannes, A J Sharp, H C Mefford, et al.
Human Mutation
|
October 16, 2007
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
B L Callewaert, A Willaert, W S Kerstjens-Frederikse, et al.
American Journal of Human Genetics
|
February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
J Kohlhase, P E Taschner, P Burfeind, et al.
Human Molecular Genetics
|
July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
E De Baere, M J Dixon, K W Small, et al.
Journal of Dental Research
|
November 12, 2016
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing
K D Khandelwal, N Ishorst, H Zhou, et al.
Molecular Syndromology
|
November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L Desmyter, M Ghassibe, N Revencu, et al.
American Journal of Human Genetics
|
December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
H J Lüdecke, J Schaper, P Meinecke, et al.
Molecular Psychiatry
|
February 4, 2015
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, S A Haas, J Chelly, et al.
Page
of 23