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Genetic Counseling (Geneva, Switzerland)
|
November 15, 2006
Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14
B H W Faas, J Van Der Deure, M I Wunderink, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2006
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
Ilse Gutierrez-Roelens, Luc De Roy, Caroline Ovaert, et al.
Advances in Oto-Rhino-Laryngology
|
November 1, 2002
Hearing impairment in Stickler syndrome
R J C Admiraal, Y M Szymko, A J Griffith, et al.
Brain Research. Developmental Brain Research
|
July 6, 2005
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
Bert van der Zwaag, J Peter H Burbach, Han G Brunner, et al.
Muscle & Nerve
|
March 1, 1992
Eye movement disorder: an early expression of the myotonic dystrophy gene?
J P ter Bruggen, C C Tijssen, H G Brunner, et al.
Psychopathology
|
November 27, 2009
Psychiatric profile in rubinstein-taybi syndrome. A review and case report
W M A Verhoeven, S Tuinier, H J H Kuijpers, et al.
Journal of Medical Genetics
|
October 23, 1998
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
H E Cunliffe, L A McNoe, T A Ward, et al.
Biochimica Et Biophysica Acta
|
December 1, 1977
Fractionation of membrane vesicles. II. A method for separation of membrane vesicles bearing different enzymes by free-flow electrophoresis
G Brunner, H G Heidrich, J R Golecki, et al.
Clinical Dysmorphology
|
September 5, 2009
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
Marjolijn C J Jongmans, Rolph Pfundt, Jayne Y Hehir-Kwa, et al.
Iranian Biomedical Journal
|
May 4, 2017
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
Mohammad Ghofrani, Mahin Yahyaei, Han G. Brunner, et al.
Page
of 73
Search research articles
Search
Showing results (281-290 of 727) with videos related to
Sort By:
Page
of 73
Genetic Counseling (Geneva, Switzerland)
|
November 15, 2006
Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14
B H W Faas, J Van Der Deure, M I Wunderink, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2006
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
Ilse Gutierrez-Roelens, Luc De Roy, Caroline Ovaert, et al.
Advances in Oto-Rhino-Laryngology
|
November 1, 2002
Hearing impairment in Stickler syndrome
R J C Admiraal, Y M Szymko, A J Griffith, et al.
Brain Research. Developmental Brain Research
|
July 6, 2005
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
Bert van der Zwaag, J Peter H Burbach, Han G Brunner, et al.
Muscle & Nerve
|
March 1, 1992
Eye movement disorder: an early expression of the myotonic dystrophy gene?
J P ter Bruggen, C C Tijssen, H G Brunner, et al.
Psychopathology
|
November 27, 2009
Psychiatric profile in rubinstein-taybi syndrome. A review and case report
W M A Verhoeven, S Tuinier, H J H Kuijpers, et al.
Journal of Medical Genetics
|
October 23, 1998
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies
H E Cunliffe, L A McNoe, T A Ward, et al.
Biochimica Et Biophysica Acta
|
December 1, 1977
Fractionation of membrane vesicles. II. A method for separation of membrane vesicles bearing different enzymes by free-flow electrophoresis
G Brunner, H G Heidrich, J R Golecki, et al.
Clinical Dysmorphology
|
September 5, 2009
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
Marjolijn C J Jongmans, Rolph Pfundt, Jayne Y Hehir-Kwa, et al.
Iranian Biomedical Journal
|
May 4, 2017
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
Mohammad Ghofrani, Mahin Yahyaei, Han G. Brunner, et al.
Page
of 73