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American Journal of Human Genetics
|
April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
Human Reproduction (Oxford, England)
|
February 25, 2006
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature
Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al.
Experimental and Therapeutic Medicine
|
March 27, 2014
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
Emmanouil Manolakos, Annalisa Vetro, Antonios Garas, et al.
Human Genetics
|
July 8, 2005
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
Tiziano Pramparo, Salvatore Grosso, Jole Messa, et al.
European Journal of Medical Genetics
|
January 27, 2018
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, et al.
Italian Journal of Pediatrics
|
June 4, 2009
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Elga F Belligni, Elisa Biamino, Cristina Molinatto, et al.
European Journal of Medical Genetics
|
October 23, 2012
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome
Francesca Novara, Enrico Alfei, Stefano D'Arrigo, et al.
Human Genetics
|
September 7, 2002
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, et al.
Prenatal Diagnosis
|
May 29, 2010
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth
Ioannis Papoulidis, Emmanouil Manolakos, Elisavet Siomou, et al.
Medicine
|
December 23, 2021
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study
Amelia Caretto, Edoardo Errichiello, Maria Grazia Patricelli, et al.
Page
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Search research articles
Search
Showing results (81-90 of 222) with videos related to
Sort By:
Page
of 23
American Journal of Human Genetics
|
April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
Human Reproduction (Oxford, England)
|
February 25, 2006
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature
Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al.
Experimental and Therapeutic Medicine
|
March 27, 2014
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
Emmanouil Manolakos, Annalisa Vetro, Antonios Garas, et al.
Human Genetics
|
July 8, 2005
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
Tiziano Pramparo, Salvatore Grosso, Jole Messa, et al.
European Journal of Medical Genetics
|
January 27, 2018
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, et al.
Italian Journal of Pediatrics
|
June 4, 2009
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Elga F Belligni, Elisa Biamino, Cristina Molinatto, et al.
European Journal of Medical Genetics
|
October 23, 2012
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome
Francesca Novara, Enrico Alfei, Stefano D'Arrigo, et al.
Human Genetics
|
September 7, 2002
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, et al.
Prenatal Diagnosis
|
May 29, 2010
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth
Ioannis Papoulidis, Emmanouil Manolakos, Elisavet Siomou, et al.
Medicine
|
December 23, 2021
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study
Amelia Caretto, Edoardo Errichiello, Maria Grazia Patricelli, et al.
Page
of 23