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A Bottani

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Clinical Dysmorphology|July 1, 1993
A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndromeA Bottani, A Schinzel
European Journal of Pediatrics|May 1, 1991
The cardio-facio-cutaneous syndrome: report of a patient and review of the literatureA Bottani, I Hammerer, A Schinzel
Journal of Medical Genetics|August 1, 1995
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the handsA Verloes, A David, L Ngô, et al.
Annales De Genetique|October 20, 1999
Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocationA Paoloni-Giacobino, A Bottani, S P Dahoun
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 5, 2001
Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletionA Trombetti, A Bottani, F George, et al.
Human Genetics|October 1, 1991
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locusA Bottani, Y G Xie, F Binkert, et al.
American Journal of Medical Genetics|April 14, 1997
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromesA Verloes, I K Temple, S Bonnet, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 15, 2000
[Blepharophimosis-ptosis-epicanthus inversus associated with infertility]M Morales, D Chardonnens, A Bottani, et al.
European Journal of Medical Genetics|October 12, 2010
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopiaS Gimelli, P Makrythanasis, C Stouder, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Clinical Dysmorphology|July 1, 1993
A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndromeA Bottani, A Schinzel
European Journal of Pediatrics|May 1, 1991
The cardio-facio-cutaneous syndrome: report of a patient and review of the literatureA Bottani, I Hammerer, A Schinzel
Journal of Medical Genetics|August 1, 1995
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the handsA Verloes, A David, L Ngô, et al.
Annales De Genetique|October 20, 1999
Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocationA Paoloni-Giacobino, A Bottani, S P Dahoun
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 5, 2001
Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletionA Trombetti, A Bottani, F George, et al.
Human Genetics|October 1, 1991
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locusA Bottani, Y G Xie, F Binkert, et al.
American Journal of Medical Genetics|April 14, 1997
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromesA Verloes, I K Temple, S Bonnet, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|January 15, 2000
[Blepharophimosis-ptosis-epicanthus inversus associated with infertility]M Morales, D Chardonnens, A Bottani, et al.
European Journal of Medical Genetics|October 12, 2010
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopiaS Gimelli, P Makrythanasis, C Stouder, et al.
Pageof 3