Related Experiment Videos
Complex chromosomal rearrangement (CCR), moderate mental retardation and discrete dysmorphic syndrome
A Kleczkowska1, J P Fryns, P Decock
1Centre for Human Genetics, University of Leuven, Belgium.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The Floating-Harbor syndrome: two affected siblings in a family.
Clinical genetics·1996
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
Genetic counseling (Geneva, Switzerland)·1995
Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus.
Annales de genetique·1994
Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.
Genetic counseling (Geneva, Switzerland)·1993
A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter).
Annales de genetique·1993
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
Genetic counseling (Geneva, Switzerland)·1993
TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.
Genetic counseling (Geneva, Switzerland)·2018
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
Genetic counseling (Geneva, Switzerland)·2018
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
Genetic counseling (Geneva, Switzerland)·2018
MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.
Genetic counseling (Geneva, Switzerland)·2018
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Genetic counseling (Geneva, Switzerland)·2018
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.
Genetic counseling (Geneva, Switzerland)·2018