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P Meinecke

Showing results (61-70 of 93) with videos related to

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American Journal of Medical Genetics|February 15, 1993
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defectsG Gillessen-Kaesbach, P Meinecke, C Garrett, et al.
Cytogenetic and Genome Research|August 6, 2003
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of XpK Kutsche, W Werner, O Bartsch, et al.
Pediatric Radiology|December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasiasS Unger, M Le Merrer, P Meinecke, et al.
Calcified Tissue International|July 1, 1987
Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfectaE Kirsch, T Krieg, A Nerlich, et al.
Journal of Medical Genetics|February 24, 2001
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)D Wieczorek, M Krause, F Majewski, et al.
Human Genetics|January 27, 2000
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8H J Lüdecke, O Schmidt, J Nardmann, et al.
Journal of Medical Genetics|July 13, 2002
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBPO Bartsch, K Locher, P Meinecke, et al.
Clinical Dysmorphology|April 1, 1995
Desbuquois syndrome: three further cases and review of the literatureG Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
"C" trigonocephaly syndrome with diaphragmnatic herniaM C Addor, D Stefanutti, F Farron, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriersA S Plomp, C E De Die-Smulders, P Meinecke, et al.
Pageof 10

Showing results (61-70 of 93) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics|February 15, 1993
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defectsG Gillessen-Kaesbach, P Meinecke, C Garrett, et al.
Cytogenetic and Genome Research|August 6, 2003
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of XpK Kutsche, W Werner, O Bartsch, et al.
Pediatric Radiology|December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasiasS Unger, M Le Merrer, P Meinecke, et al.
Calcified Tissue International|July 1, 1987
Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfectaE Kirsch, T Krieg, A Nerlich, et al.
Journal of Medical Genetics|February 24, 2001
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)D Wieczorek, M Krause, F Majewski, et al.
Human Genetics|January 27, 2000
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8H J Lüdecke, O Schmidt, J Nardmann, et al.
Journal of Medical Genetics|July 13, 2002
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBPO Bartsch, K Locher, P Meinecke, et al.
Clinical Dysmorphology|April 1, 1995
Desbuquois syndrome: three further cases and review of the literatureG Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
"C" trigonocephaly syndrome with diaphragmnatic herniaM C Addor, D Stefanutti, F Farron, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriersA S Plomp, C E De Die-Smulders, P Meinecke, et al.
Pageof 10