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Tuva Barøy

Showing results (1-10 of 19) with videos related to

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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 13, 2008
[Structural variation in the human genome contributes to variation of traits]Tuva Barøy, Doriana Misceo, Eirik Frengen
Molecular Biotechnology|February 2, 2010
shRNA expression constructs designed directly from siRNA oligonucleotide sequencesTuva Barøy, Kirsten Sørensen, Mona Mari Lindeberg, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expressionJohan Robert Helle, Tuva Barøy, Doriana Misceo, et al.
European Journal of Medical Genetics|September 19, 2012
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic featuresKarijn Floor, Tuva Barøy, Doriana Misceo, et al.
European Journal of Medical Genetics|April 13, 2010
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotypeTuva Barøy, Doriana Misceo, Oivind Braaten, et al.
BMC Medical Genetics|December 20, 2015
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan SyndromeLena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, et al.
European Journal of Medical Genetics|June 10, 2014
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphismsMadeleine Fannemel, Tuva Barøy, Asbjørn Holmgren, et al.
Journal of the Endocrine Society|July 20, 2023
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone AlphaLouise Koren Dahll, Alexander Bauer Westbye, Kristin Vinorum, et al.
American Journal of Ophthalmology Case Reports|March 4, 2022
A novel homozygous variant in the <i>SPG7</i> gene presenting with childhood optic nerve atrophyKathrine O Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, et al.
Molecular Cytogenetics|August 4, 2015
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphismsEva Hladilkova, Tuva Barøy, Madeleine Fannemel, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 13, 2008
[Structural variation in the human genome contributes to variation of traits]Tuva Barøy, Doriana Misceo, Eirik Frengen
Molecular Biotechnology|February 2, 2010
shRNA expression constructs designed directly from siRNA oligonucleotide sequencesTuva Barøy, Kirsten Sørensen, Mona Mari Lindeberg, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expressionJohan Robert Helle, Tuva Barøy, Doriana Misceo, et al.
European Journal of Medical Genetics|September 19, 2012
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic featuresKarijn Floor, Tuva Barøy, Doriana Misceo, et al.
European Journal of Medical Genetics|April 13, 2010
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotypeTuva Barøy, Doriana Misceo, Oivind Braaten, et al.
BMC Medical Genetics|December 20, 2015
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan SyndromeLena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, et al.
European Journal of Medical Genetics|June 10, 2014
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphismsMadeleine Fannemel, Tuva Barøy, Asbjørn Holmgren, et al.
Journal of the Endocrine Society|July 20, 2023
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone AlphaLouise Koren Dahll, Alexander Bauer Westbye, Kristin Vinorum, et al.
American Journal of Ophthalmology Case Reports|March 4, 2022
A novel homozygous variant in the <i>SPG7</i> gene presenting with childhood optic nerve atrophyKathrine O Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, et al.
Molecular Cytogenetics|August 4, 2015
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphismsEva Hladilkova, Tuva Barøy, Madeleine Fannemel, et al.
Pageof 2