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Artikel Deutsches Ärzteblatt
www.aerzteblatt.de
Raoul Heller. Verein für von der von Hippel-Lindau (VHL) Erkrankung betroffene Familien e.V. (Hrsg.): von Hippel-Lindau (VHL). Eine patientenorientierte ...
Wie funktioniert Vererbung? | Duda.news
www.duda.news
Und wer bestimmt über unser Aussehen und unsere Eigenschaften? Das beantwortet uns Raoul Heller zum Tag der Familie, der am Wochenende stattfindet.
Interests
Gene discovery sheds light on growth defects linked to dwarfism
www.sciencedaily.com
A new study shows how errors in a specific gene can cause growth defects associated with a rare type of dwarfism.
Molecular studies in 10 cases of Rubinstein-Taybi syndrome ...
jmg.bmj.com
Jul 01, · This work is respectfully dedicated to Georg Klaus Hinkel on the occasion of his 65th birthday. We thank the family members for participation, M Richter for technical assistance, our colleagues for sharing clinical data, F Petrij for kindly providing cosmid RT100, and Dr Raoul Heller.
Recessive TRAPPC11 Mutations Cause a …
www.cell.com
Raoul Heller. x. Raoul Heller. Search for articles by this author Affiliations. Institute of Human Genetics, University Hospital Cologne, Cologne, Germany,
Private Homepages
Raoul Heller
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HGSA Program - Human Genetics Society of Australasia
www.hgsa.org.au
Aug 03, · TUBB6 associated with a new phenotype of nonprogressive congenital facial palsy, bilateral ptosis, velopharyngeal dysfunction – Dr Raoul Heller CONCURRENT SESSION 8: ASGC 7.
Kontakt · Kompetenznetz Pränatalmedizin
www.praenat-koeln.de
Dr. med. Raoul Heller, PhD. Institut für Humangenetik Uniklinik Köln Köln Fon: + Fax: +
Books & Literature
Disease expression in autosomal recessive retinal dystrophy...
biblio.ugent.be
Sergouniotis, Panagiotis I, Martin McKibbin, Anthony G Robson, Hanno J Bolz, Elfride De Baere, Philipp L Müller, Raoul Heller, et al “Disease Expression in Autosomal Recessive Retinal Dystrophy Associated with Mutations in the DRAM2 Gene.” Investigative Ophthalmology & Visual Science 56 …
Search | IOVS | ARVO Journals
iovs.arvojournals.org
Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof ...
Du har kun ét liv - Gitte Nielsen - Google Books
books.google.de
Det kan ifølge Raoul heller ikke aflyses. Søndagmorgen fløjjeg hjem med et helt nyt had i mit hjerte. Et had til Raoul og til mitliv, for selvom jeg nu hadede min ...
Related Documents
GENETIC ANALYSIS OF CONGENITAL LIMB MALFORMATIONS by Santosh yadav pp…
www.slideshare.net
INTRODUCTION Limb development is a complex process by which limb is formed from embryonic cell, grow and digits are formed. Limb formation begins in the limb f…
A new locus for split hand/foot malformation with long bone...
www.proquest.com
Christian Babbs · Raoul Heller · David B. Everman ·. Mark Crocker ... The authors Christian Babbs and Raoul Heller have contributed equally to ...
Non-manifesting AHI1 truncations indicate localized loss-of-function...
www.deepdyve.com
... truncations indicate localized. loss-of-function tolerance in a severe Mendelian. disease gene. Solaf M. Elsayed. 1,2,†. , Jennifer B. Phillips. 3,†. , Raoul Heller.
Scientific Publications
Uniparental disomies 7 and 14
www.sciencedirect.com
6 Uniparental disomies 7 and 14 Katrin Hoffmann, PD Dr. med.a,c, Raoul Heller, Dr. med., D.Philb,* aInstitute of Medical Genetics, Campus Virchow-Klinikum, Charité ...
Mammalian artificial chromosomes - PubMed
pubmed.ncbi.nlm.nih.gov
The development of candidate vectors and of techniques for their manipulation by sequence targeting suggest that a mini-chromosome vector system for the mouse...
The supposed tumor suppressor gene WWOX is mutated in an early lethal...
ojrd.biomedcentral.com
WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is...
Vielversprechende Ergebnisse der Phase III-Studie mit Olesoxime bei...
www.initiative-sma.de
Die Initiative »Forschung und Therapie für die Spinale Muskelatrophie« hat sich zum Ziel gesetzt, durch spendenbasierte Forschungsförderung die Entwicklung...
Publications
Publications Authored by Raoul Heller | PubFacts
www.pubfacts.com
Publications Authored by Raoul Heller
A new locus for split hand/foot malformation with long bone...
link.springer.com
... synteny, suggests that 2q14.2 represents a novel locus for SHFLD. The authors Christian Babbs and Raoul Heller have contributed equally to this study.
A novel homozygous missense mutation in FGF23 causes Familial Tumoral...
link.springer.com
ORIGINAL INVESTIGATION Ilana Chefetz Æ Raoul Heller Assimina Galli-Tsinopoulou Æ Gabriele Richard Bernd Wollnik Æ Margarita Indelman Friederike Koerber Æ Orit
Reports & Statements
The challenge of defining pathogenicity: the example of AHI1 |...
www.nature.com
Letter to the Editor
dr. Şlomo LEIBOVICI- Laiş, Israel | BIANCA MARCOVICI, ביאנקה מרקוביץ...
wxwx.wordpress.com
de Dr. Slomo Leibovici-Laiş Enunţarea în sine a temei, în numărul trecut alrevistei, nu a exploatat tema în toată amploarea ei.Pentru continua încurajare a...
Miscellaneous
Stream Raoul Heller music | Listen to songs, albums, playlists for...
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Play Raoul Heller and discover followers on SoundCloud | Stream tracks, albums, playlists on desktop and mobile.
HGSA Concurrent Session 1: AACG
aacb.eventsair.com
Aug 04, · Chairs: A/Prof Paul James & Dr Raoul Heller Speaker. Mr Tom Cloney Medical Student The University of Melbourne The diagnostic trajectory of families undiagnosed after singleton exome sequencing 1:15 PM - 1:30 PM Dr Natalie Tan Clinical Geneticist / Genetic Pathology Trainee ...
Jahrestagung mit Mitgliederversammlung des Landesverbandes NRW |...
www.dgm.org
... Herr Priv.-Doz. Dr. Jürgen-Christoph von Kleist-Retzow, Oberarzt an der Universitäts-Kinderklinik Köln; Herr Dr. Raoul Heller, ...
PEX6 mutation causing deafblindness with enamel dysplasia and...
iovs.arvojournals.org
Hanno Joern Bolz, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Eveline Baumgart-Vogt, Maha Zaki; PEX6 mutation causing deafblindness with enamel dysplasia and microcephaly.
Patientenseminar Marfan-Syndrom NRW - Marfan Hilfe (Deutschland) e.V.
www.marfan.de
Herr Dr. Raoul Heller vom Institut für Humangenetik informierte über das „Fibrillin 1"-Gen, welches für das Marfan-Syndrom verantwortlich ist.
University Hospital Cologne
rd-neuromics.eu
University Hospital Cologne; University of Antwerp – CDE; University of Ferrara; University of Milan; ... Raoul Heller. Markus Riessland. Brunhilde Wirth
Mitglieder · Kompetenznetz Pränatalmedizin
www.praenat-koeln.de
www.frauenklinik.uk-koeln.de/praenatalemedizin_geburtshilfe praenatalmedizin( at)uk-koeln.de. Dr. med. Raoul Heller, PhD. Institut für Humangenetik Uniklinik ...
Mutation of POC1B in a severe syndromic retinal ciliopathy —...
moh-it.pure.elsevier.com
... Michaela Thoenes ; Andrea Pannes ; Josephina Sampson ; Raoul Heller ; Heike Göbel ; Friederike Koerber ; Antje Neugebauer ; Andrea ...
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness...
www.bionity.com
ABSTRACT
Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital...
Recherche sur Perrine HELLER
www.enligne.fr
Raoul HELLER · Perrine HENRIOT · Raphaël HELLER · Perrine HENRY · Raymond HELLER · Perrine HEQUET · Rebecca HELLER · Perrine HERAIL.
SMA Tag | Deutsche Gesellschaft für Muskelkranke e.V. (DGM)
www.dgm.org
Raoul Heller vom Institut für Humangenetik an der Universität zu Köln einen Vortrag über Neues vom SMA-Kongress in Washington DC.
Scilit | Article - Plastin 3 is upregulated in iPSC-derived...
www.scilit.net
... Seyyed Mohsen Hosseini-Barkooie, Markus Storbeck, Noemi Fusaki, Renata Lonigro, Raoul Heller, Min Jeong Kye, Oliver Brüstle, Brunhilde ...
- Castro har ikke magekreft
www.nettavisen.no
Cubanske myndigheter gjør sitt beste for å dempe spekulasjonene om Fidel Castros helsetilstand.
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