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European Journal of Human Genetics : EJHG
|
March 14, 2000
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
S Giglio, B Pirola, G Arrigo, et al.
Revista Medica De Chile
|
July 7, 2000
[Detection of pyrogenic exotoxin SpeA, SpeB and SpeC genes in Chilean streptococci isolates and their association with clinical manifestations]
M T Ulloa, M S Giglio, L Porte, et al.
Emerging Infectious Diseases
|
December 22, 1999
Proficiency in detecting vancomycin resistance in enterococci among clinical laboratories in Santiago, Chile
J A Labarca, L C McDonald, M E Pinto, et al.
Clinical Genetics
|
July 13, 2010
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations
A Maffé, B Toschi, G Circo, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
March 20, 2014
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
M Callea, C E Willoughby, P Nieminen, et al.
Nature Genetics
|
June 1, 1996
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
S Banfi, G Borsani, E Rossi, et al.
Plastic and Reconstructive Surgery. Global Open
|
February 17, 2025
Impact of COVID-19 on Thrombotic Complications in Microsurgery: Deep Inferior Epigastric Perforator Flap Outcomes Amid Pandemic
Daniel P Zaki, Eric Zeng, Mary L Duet, et al.
Clinical Genetics
|
August 6, 2014
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene
V Conti, M Pantaleo, C Barba, et al.
Genomics
|
September 2, 1998
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
L de Conciliis, A Marchitiello, M C Wapenaar, et al.
Journal of Medical Genetics
|
June 3, 2004
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
R Giorda, A Cerritello, M C Bonaglia, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 73) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
March 14, 2000
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
S Giglio, B Pirola, G Arrigo, et al.
Revista Medica De Chile
|
July 7, 2000
[Detection of pyrogenic exotoxin SpeA, SpeB and SpeC genes in Chilean streptococci isolates and their association with clinical manifestations]
M T Ulloa, M S Giglio, L Porte, et al.
Emerging Infectious Diseases
|
December 22, 1999
Proficiency in detecting vancomycin resistance in enterococci among clinical laboratories in Santiago, Chile
J A Labarca, L C McDonald, M E Pinto, et al.
Clinical Genetics
|
July 13, 2010
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations
A Maffé, B Toschi, G Circo, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
March 20, 2014
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
M Callea, C E Willoughby, P Nieminen, et al.
Nature Genetics
|
June 1, 1996
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
S Banfi, G Borsani, E Rossi, et al.
Plastic and Reconstructive Surgery. Global Open
|
February 17, 2025
Impact of COVID-19 on Thrombotic Complications in Microsurgery: Deep Inferior Epigastric Perforator Flap Outcomes Amid Pandemic
Daniel P Zaki, Eric Zeng, Mary L Duet, et al.
Clinical Genetics
|
August 6, 2014
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene
V Conti, M Pantaleo, C Barba, et al.
Genomics
|
September 2, 1998
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
L de Conciliis, A Marchitiello, M C Wapenaar, et al.
Journal of Medical Genetics
|
June 3, 2004
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
R Giorda, A Cerritello, M C Bonaglia, et al.
Page
of 8