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European Journal of Medical Genetics
|
January 16, 2007
Posterior helical pits
Trine E Prescott, Raoul C M Hennekam
European Journal of Medical Genetics
|
February 28, 2007
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Karen Helene Ørstavik, Trine Tangeraas, Anders Molven, et al.
Clinical Dysmorphology
|
December 6, 2008
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Trine E Prescott, Olaug K Rødningen, Alf Bjørnstad, et al.
Journal of the Royal Society of Medicine
|
December 2, 2005
A surrealistic mega-analysis of redisorganization theories
Andrew D Oxman, David L Sackett, Iain Chalmers, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
September 18, 2008
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
Anne Kaasen, Trine E Prescott, Arvid Heiberg, et al.
Healthcare Quarterly (Toronto, Ont.)
|
July 13, 2006
A surrealistic mega-analysis of redisorganization theories
Andrew D Oxman, David L Sackett, Iain Chalmers, et al.
Gene
|
February 2, 2013
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Ingunn Holm, Tom Monclair, Tryggve Lundar, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
November 26, 2009
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Anders Molven, Oddmund Søvik, Charlotte von der Lippe, et al.
European Journal of Medical Genetics
|
June 12, 2016
Two male sibs with severe micrognathia and a missense variant in MED12
Trine E Prescott, Mari Ann Kulseth, Ketil R Heimdal, et al.
Journal of Medical Genetics
|
December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
January 16, 2007
Posterior helical pits
Trine E Prescott, Raoul C M Hennekam
European Journal of Medical Genetics
|
February 28, 2007
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Karen Helene Ørstavik, Trine Tangeraas, Anders Molven, et al.
Clinical Dysmorphology
|
December 6, 2008
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Trine E Prescott, Olaug K Rødningen, Alf Bjørnstad, et al.
Journal of the Royal Society of Medicine
|
December 2, 2005
A surrealistic mega-analysis of redisorganization theories
Andrew D Oxman, David L Sackett, Iain Chalmers, et al.
Acta Obstetricia Et Gynecologica Scandinavica
|
September 18, 2008
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
Anne Kaasen, Trine E Prescott, Arvid Heiberg, et al.
Healthcare Quarterly (Toronto, Ont.)
|
July 13, 2006
A surrealistic mega-analysis of redisorganization theories
Andrew D Oxman, David L Sackett, Iain Chalmers, et al.
Gene
|
February 2, 2013
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Ingunn Holm, Tom Monclair, Tryggve Lundar, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
November 26, 2009
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Anders Molven, Oddmund Søvik, Charlotte von der Lippe, et al.
European Journal of Medical Genetics
|
June 12, 2016
Two male sibs with severe micrognathia and a missense variant in MED12
Trine E Prescott, Mari Ann Kulseth, Ketil R Heimdal, et al.
Journal of Medical Genetics
|
December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Page
of 2