Showing results (111-120 of 899) with videos related to
Sort By:
Pageof 90
Genetic Counseling (Geneva, Switzerland)|January 1, 1994
Normal/trisomy 13 mosaicism in a 38-year-old maleP Petit, J P FrynsJournal De Genetique Humaine|September 1, 1989
[Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year]K Chrzanowska, J P FrynsGenetic Counseling (Geneva, Switzerland)|April 28, 2010
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposisT Lukusa, J P FrynsJournal of Medical Genetics|March 1, 1993
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?D Soekarman, J P FrynsGenetic Counseling (Geneva, Switzerland)|January 1, 1992
Extreme growth failure and kyphoscoliosis as complications of the distal trisomy 10q syndromeD Soekarman, J P FrynsGenetic Counseling (Geneva, Switzerland)|July 14, 2000
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescenceT Lukusa, J P FrynsJournal of Medical Genetics|July 1, 1988
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patientJ P Fryns, P MoermanAmerican Journal of Medical Genetics|July 1, 1987
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defectM Buttiens, J P FrynsAmerican Journal of Medical Genetics|November 1, 1986
Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysisP Petit, J P FrynsAnnales De Genetique|January 1, 1987
Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45,XX,-21,-21,+t(21;21)(p11;q11)J P Fryns, A KleczkowskaPageof 90