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Eric Haan

Showing results (31-40 of 75) with videos related to

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Human Molecular Genetics|October 25, 2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndromeElla Thomson, Minh Tran, Gorjana Robevska, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Pediatric Pulmonology|August 14, 2012
RPGR mutations might cause reduced orientation of respiratory ciliaZuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, Shanna Suwalski, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 9, 2010
Osteopathia striata with cranial sclerosis owing to WTX gene defectBram Perdu, Fenna de Freitas, Suzanne G M Frints, et al.
Plos One|February 26, 2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol Dobson-Stone, Marianne Hallupp, Clement T Loy, et al.
Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.
Pageof 8

Showing results (31-40 of 75) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|October 25, 2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndromeElla Thomson, Minh Tran, Gorjana Robevska, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Pediatric Pulmonology|August 14, 2012
RPGR mutations might cause reduced orientation of respiratory ciliaZuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, Shanna Suwalski, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 9, 2010
Osteopathia striata with cranial sclerosis owing to WTX gene defectBram Perdu, Fenna de Freitas, Suzanne G M Frints, et al.
Plos One|February 26, 2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol Dobson-Stone, Marianne Hallupp, Clement T Loy, et al.
Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.
Pageof 8