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American Journal of Medical Genetics. Part A
|
January 19, 2008
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant
Robin R McGoey, Yves Lacassie
American Journal of Medical Genetics. Part A
|
October 31, 2009
Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy
Robin R McGoey, Yves Lacassie
American Journal of Medical Genetics. Part A
|
November 26, 2010
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity
Robin McGoey, Aditi Varma, Yves Lacassie
American Journal of Medical Genetics
|
October 31, 2002
Provisional new syndrome of MR/MCA with evolving phenotype
Yves Lacassie, Eva Morava, Ivan LaMotta
American Journal of Medical Genetics. Part A
|
January 13, 2021
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them
Benjamin Chanes, Marta Arriaza, Yves Lacassie
European Journal of Medical Genetics
|
August 14, 2014
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father
Jacob Loupe, Srirangan Sampath, Yves Lacassie
American Journal of Medical Genetics. Part A
|
August 6, 2003
De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
Luisa Florez, Mary Anderson, Yves Lacassie
American Journal of Medical Genetics. Part A
|
April 12, 2011
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31
Srirangan Sampath, Bronya J B Keats, Yves Lacassie
European Journal of Medical Genetics
|
October 13, 2017
New ocular finding in Baraitser-Winter syndrome (BWS)
Natalie Rall, Alejandro Leon, Ricardo Gomez, et al.
Journal of Pediatric Orthopedics
|
November 1, 2002
Scoliosis in velo-cardio-facial syndrome
Eva Morava, Yves Lacassie, Andrew King, et al.
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of 5
Search research articles
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Showing results (1-10 of 43) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
January 19, 2008
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant
Robin R McGoey, Yves Lacassie
American Journal of Medical Genetics. Part A
|
October 31, 2009
Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy
Robin R McGoey, Yves Lacassie
American Journal of Medical Genetics. Part A
|
November 26, 2010
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity
Robin McGoey, Aditi Varma, Yves Lacassie
American Journal of Medical Genetics
|
October 31, 2002
Provisional new syndrome of MR/MCA with evolving phenotype
Yves Lacassie, Eva Morava, Ivan LaMotta
American Journal of Medical Genetics. Part A
|
January 13, 2021
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them
Benjamin Chanes, Marta Arriaza, Yves Lacassie
European Journal of Medical Genetics
|
August 14, 2014
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father
Jacob Loupe, Srirangan Sampath, Yves Lacassie
American Journal of Medical Genetics. Part A
|
August 6, 2003
De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
Luisa Florez, Mary Anderson, Yves Lacassie
American Journal of Medical Genetics. Part A
|
April 12, 2011
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31
Srirangan Sampath, Bronya J B Keats, Yves Lacassie
European Journal of Medical Genetics
|
October 13, 2017
New ocular finding in Baraitser-Winter syndrome (BWS)
Natalie Rall, Alejandro Leon, Ricardo Gomez, et al.
Journal of Pediatric Orthopedics
|
November 1, 2002
Scoliosis in velo-cardio-facial syndrome
Eva Morava, Yves Lacassie, Andrew King, et al.
Page
of 5