j-p-fryns documents

The Dubowitz syndrome in a teenager
Documents The Dubowitz syndrome in a teenager
Acrofacial dysostosis with postaxial limb deficiency
Documents Acrofacial dysostosis with postaxial limb deficiency
Hyperlaxity in males with Melnick-Needles syndrome
Documents Hyperlaxity in males with Melnick-Needles syndrome
MASA syndrome: Delineation of the clinical spectrum at prepubertal age
Documents MASA syndrome: Delineation of the clinical spectrum at prepubertal age
Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))
Documents Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))
Apparent Greig cephalopolysyndactyly and sinus node disease
Documents Apparent Greig cephalopolysyndactyly and sinus node disease
Aarskog syndrome: The changing phenotype with age
Documents Aarskog syndrome: The changing phenotype with age
Adults with Williams syndrome
Documents Adults with Williams syndrome
Single central maxillary incisor and holoprosencephaly
Documents Single central maxillary incisor and holoprosencephaly
X-linked mental retardation with Marfanoid habitus
Documents X-linked mental retardation with Marfanoid habitus
Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome?
Documents Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome?
Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency
Documents Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency
Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata
Documents Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata
Interstitial delection of the long arm of chromosome 8
Documents Interstitial delection of the long arm of chromosome 8
Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother
Documents Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother
Partial duplication of the short arm of chromosome 10
Documents Partial duplication of the short arm of chromosome 10
9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata
Documents 9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata
Congenital scalp defects associated with postaxial polydactyly
Documents Congenital scalp defects associated with postaxial polydactyly
Tertiary partial 14 trisomy 47, XX, +14q-
Documents Tertiary partial 14 trisomy 47, XX, +14q-
Trisomy 12p due to familial t(12p-,6q+) translocation
Documents Trisomy 12p due to familial t(12p-,6q+) translocation
Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl
Documents Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl