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Chromosomal map of human brain malformations

Tyshchenko, Nataliya ; Lurie, Iosif ; Schinzel, Albert

In: Human Genetics, 2008, vol. 124, no. 1, p. 73-80

Consortium of Swiss Academic Libraries

Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

Meyer, Jobst ; Südbeck, Peter ; Held, Marika ; Wagner, Thomas ; Schmitz, M. Lienhard ; Dagna Bricarelli, Franca ; Eggermont, Ephrem ; Friedrich, Ursula ; Haas, Oskar A. ; Kobelt, Albrecht ; Leroy, Jules G. ; Van Maldergem, Lionel ; Michel, Erik ; Mitulla, Beate ; Pfeiffer, Rudolf A. ; Schinzel, Albert ; Schmidt, Heinrich ; Scherer, Gerd

In: Human Molecular Genetics, 1997, vol. 6, no. 1, p. 91-98

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Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Kotzot, Dieter ; Schmitt, Silke ; Bernasconi, Fabiana ; Robinson, Wendy P. ; Lurie, Iosif W. ; Ilyina, Helena ; Méhes, Károly ; Hamel, Ben C.J. ; Otten, Barto J. ; Hergersberg, Martin ; Werder, Edmond ; Schoenle, Eugen ; Schinzel, Albert

In: Human Molecular Genetics, 1995, vol. 4, no. 4, p. 583-587

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An ancient founder mutation in PROKR2 impairs human reproduction

Avbelj Stefanija, Magdalena ; Jeanpierre, Marc ; Sykiotis, Gerasimos P. ; Young, Jacques ; Quinton, Richard ; Abreu, Ana Paula ; Plummer, Lacey ; Au, Margaret G. ; Balasubramanian, Ravikumar ; Dwyer, Andrew A. ; Florez, Jose C. ; Cheetham, Timothy ; Pearce, Simon H. ; Purushothaman, Radhika ; Schinzel, Albert ; Pugeat, Michel ; Jacobson-Dickman, Elka E. ; Ten, Svetlana ; Latronico, Ana Claudia ; Gusella, James F. ; Dode, Catherine ; Crowley, William F. ; Pitteloud, Nelly

In: Human Molecular Genetics, 2012, vol. 21, no. 19, p. 4314-4324

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Unequal Interchromosomal Rearrangements May Result in Elastin Gene Deletions Causing the Williams-Beuren syndrome

Dutly, Fabrizio ; Schinzel, Albert

In: Human Molecular Genetics, 1996, vol. 5, no. 12, p. 1893-1898

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Molecular genetic analysis of the 3p — syndrome

Phipps, Maude E. ; Latif, Farida ; Prowse, Amanda ; Payne, Stewart J. ; Dietz-Band, Jeanne ; Leversha, Margaret ; Affara, Nabeel A. ; Moore, Anthony T. ; Tolmie, John ; Schinzel, Albert ; Lerman, Michael I. ; Ferguson-Smith, Malcolm A. ; Maher, Eamonn R.

In: Human Molecular Genetics, 1994, vol. 3, no. 6, p. 903-908

Consortium of Swiss Academic Libraries

A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15

Wirth, Jutta ; Back, Elke ; Hüttenhofer, Alexander ; Nothwang, Hans-Gerd ; Lich, Christina ; Groß, Stephanie ; Menzel, Corinna ; Schinzel, Albert ; Kioschis, Petra ; Tommerup, Niels ; Ropers, Hans-Hilger ; Horsthemke, Bernhard ; Buiting, Karin

In: Human Molecular Genetics, 2001, vol. 10, no. 3, p. 201-210

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