10 research outputs found
The Macula: A Comprehensive Text and Atlas
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full text
Limb anomalies in the CHARGE association.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textMutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
- Author
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 01/01/1998
- Field of study
No full textItem does not contain fulltex
Splicing mutations of 54bp exons in the COL11A1 gene cause Marshall syndrome but other mutations cause overlapping Marshall/Stickler phenotypes.
- Author
- Publication venue
- 'University of Chicago Press'
- Publication date
- 01/01/1999
- Field of study
No full textItem does not contain fulltex
The eye in the CHARGE association.
- Author
- August G.P.
- Barakat A.Y.
- Bergstrom L.
- Boles D.J.
- Brown O.E.
- Chestler R.J.
- Collins E.T.
- Curatolo P.
- Cyran S.E.
- D S Taylor
- Davenport S.L.H.
- Duncan N.O.
- Evans J.A.
- Fielder A.R.
- Franqois J.
- Goldson E.
- Hall B.D.
- Hittner H.M.
- Ho C.K.
- I M Russell-Eggitt
- In Flynn J.T.
- K D Blake
- Kaplan L.C.
- Koletzko B.
- Leclerc J.E.
- Lessick M.L.
- Lillquist K.
- Lin A.E.
- Mansour A.M.
- Metlay L.A.
- Mitchell J.A.
- Pagon R.A.
- Pardo J.M.
- R K Wyse
- Rohn R.D.
- Russell-Eggitt I.M.
- Schinzel A.
- Stewart G.
- Taylor A.
- Tovo P.A.
- Warburg M.
- Weaver D.D.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textFeatures of DiGeorge syndrome and CHARGE association in five patients.
- Author
- 22 Hall JG. CATCH
- A L Tellier
- A Munnich
- A Paupe
- Blake K.D.
- Brown O.E.
- Carey A.H.
- Carey J.C.
- Clementi M.
- Cleveland W.W.
- Conley M.E.
- Cormier-Daire V.
- D Bonnet
- Davenport S.L.H.
- Davis L.A.
- Daw S.C.M.
- Demczuk S.
- Desmaze C.
- Dev V.G.
- Driscoll D.A.
- Greenberg F.
- Greenberg F.
- Greenberg F.
- Halford S.
- Hittner H.M.
- Ho C.K.
- Huff D.S.
- Hurst J.A.
- J Amiel
- Johnston M.C.
- Klein V.R.
- la Chapelle A De
- Lacombe D.
- Lammer E.J.
- Levin D.L.
- Lischner H.W.
- M Prieur
- M Vekemans
- Mueller W.
- N Le Douarin
- Oley C.A.
- P de Lonlay-Debeney
- Pabst H.F.
- Pagon R.A.
- Poswillo D.
- Ryan A.K.
- S Couderc
- S Lyonnet
- S Odent
- Scambler P.J.
- Siebert JR, Graham
- Sulik K.K.
- Tellier A.L.
- Townes P.L.
- V Abadie
- V Cormier-Daire
- Wilson D.I.
- Wilson D.I.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textClassification of microphthalmos and coloboma.
- Author
- A De Paepe
- Apple D.J.
- Bateman J.B.
- Baumann W.
- Benke P.J.
- Berry F.D.
- Blomdahl S.
- Bronshtein M.
- Brown G.C.
- Casey R.J.
- Cennamo G.
- Cennamo G.
- Cohen M.M.
- Cook C.S.
- Corbett J.J.
- Davenport S.L.H.
- David R.
- Duke-Elder S.
- Fledelius H.
- Francois J.
- Francois J.
- Francois J.
- Francois J.
- Gardner R.J.M.
- Gernet H.
- Ghose S.
- Goldberg R.E.
- Goldberg S.H.
- Grignolo A.
- Harayama K.
- Harch C.
- Hoo J.J.
- Jacobiec F.A.
- Kulali A, Rahmanli 0
- Larsen J.S.
- Larsen J.S.
- Larsen J.S.
- Lubinsky M.
- Luycks J.
- M Warburg
- Manchot W.A.
- Mann I.
- Maumenee I.H.
- Mayden K.L.
- Miller M.T.
- Miller M.T.
- Mullaney J.
- Murata T.
- on holoprosencephaly. Part I. Epidemiology Cohen M.M.Perspectives
- Osborne D.R.
- P De Wals
- Pearce W.G.
- Pedler C.
- Porges Y.
- Rivara A.
- Salonen R.
- Schinzel A.
- Simmons J.D.
- Smithells R.W.
- Spranger J.
- Stoll C.
- Stromland K.
- Stromland K.
- Sugar H.S.
- Tsur H.
- Wallis C.E.
- Walpole I.R.
- Warburg M.
- Warburg M.
- Warburg M.
- Weiss A.
- Weiss A.H.
- Weiss A.H.
- Wright D.C.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textCraniofacial Syndromes and Malformations
- Author
- A. Choy
- A. Choy
- A. Franceschetti
- A. Huber
- A. Splendore
- A. Sugar
- A. Watanabe
- A.A. McNab
- A.E. Donnenfeld
- A.F. Lewanda
- A.F. Lewanda
- A.H. Lipson
- A.L. Tellier
- A.M. Hicks
- A.M. Putterman
- A.P. Read
- A.P. Streissguth
- B. Hall
- B.D. Hall
- B.E. Sprofkin
- B.O. Rogers
- B.R. Rollnick
- C. Gillberg
- C. Legum
- C.A. Murdoch-Kinch
- C.A. Rodrigues-Alves
- C.E. Blank
- C.F. Hoth
- C.H. Gonzalez
- C.H. Gonzalez
- C.I. Kaye
- C.J. Baker
- C.L. Randall
- C.N. Ullehand
- C.O. Leonard
- C.W.R.J. Cremers
- D. Barrucand
- D. BenEzra
- D. BenEzra
- D. David
- D. Pieroni
- D. Poswillo
- D. Poswillo
- D. Renier
- D. Wallis
- D.A. Snyder
- D.J. Hopkins
- D.J. Schanzlin
- D.M. Moloney
- E. Fernell
- E. Lajeunie
- E. Lajeunie
- E. Treacher Collins
- E.G. Puffenberger
- E.G. Weidle
- E.L. Abel
- E.L. Abel
- E.L. Traboulsi
- E.R. Wilson
- E.W. Jabs
- F. Goldstein
- F. Ponte
- F.A. Ziter
- F.H. Moreno
- F.J.S. Weinstock
- F.M. Wang
- G. Evenberg
- G.A. Berry
- G.B. Bartley
- G.L. Rogers
- G.R. Diamond
- G.R. Diamond
- H. Basiakos
- H. Kremer
- H.B. Pryor
- H.E. Cross
- H.F. Falls
- H.I. Russell-Eggitt
- H.M. Hittner
- H.T. Lynch
- H.T.F.M. Verzijl
- I. Caspersen
- J. François
- J. François
- J. Herrmann
- J. Herrmann
- J. Koliopoulos
- J. Spranger
- J.A. Kinsey
- J.A. Schild
- J.E. Ming
- J.J. Slee
- J.L. Dufier
- J.L. Marsh
- J.L. Marsh
- J.M. Cuttone
- J.M. Garber
- J.M. Graham
- J.M. Graham
- J.M. Opitz
- J.M. Opitz
- J.N. Bavinck
- J.R. Bunsic
- J.R. Siebert
- J.R. Wolter
- J.S. Fryburg
- J.W. Delleman
- J.W. Hanson
- K Strömland
- K. Hashemi
- K. Kuhlbrodt
- K. Strömland
- K. Yoon
- K.E. Rarey
- K.K. Sulik
- K.K. Sulik
- K.K. Sulik
- K.L. Jones
- K.L. Jones
- K.L. Jones
- K.L. Jones
- L. Braude
- L. Lloyd
- L. Regenbogen
- L.A. Whitacker
- L.K. Robinson
- L.S. Wildervanck
- L.S. Wildervanck
- L.S. Wildervanck
- M. Baraitser
- M. Baraitser
- M. Brik
- M. Feingold
- M. Johansson
- M. Landgren
- M. Robinow
- M. Warburg
- M.D. Higginbottom
- M.D. Wishnick
- M.E. Miller
- M.H. Becker
- M.H.K. Shokeir
- M.J. Dixon
- M.J. Dixon
- M.J. François
- M.J. Goldberg
- M.J. Hageman
- M.J. Hageman
- M.J. Kuhn
- M.M. Cohen
- M.M. Cohen
- M.M. Cohen Jr
- M.M. Cohen Jr
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Cohen Jr.
- M.M. Lees
- M.M. Mohandessan
- M.T. McDonald
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.T. Miller
- M.W. Vannier
- N. Gadoth
- N. Thakkar
- N.H. Robin
- O.A. Pantke
- O.F. D’Cruz
- O.P. Bijsterveld von
- P. Bitoun
- P. Edery
- P. Nucci
- P. Rutland
- P. Strisciuglio
- P. Tessier
- P. Tessier
- P. Tower
- P.J. Möbius
- P.J. Möbius
- P.J. Waardenburg
- R. Pallotta
- R. Torpin
- R. Virchow
- R.A. Pagon
- R.H. Warner
- R.J. Bruneteau
- R.J. Chestler
- R.L. Abbott
- R.M. Robb
- R.S. Golomb
- R.T. Sataloff
- R.T. Zori
- R.W. Hertle
- R.W. Steele
- S. Aleksic
- S. Aleksic
- S. Arias
- S. Gupta
- S. Kreiborg
- S. Kreiborg
- S. Kreiborg
- S. Leong
- S. Margolis
- S. Margolis
- S. Margolis
- S. Morax
- S. Odent
- S. Ronen
- S.A. Temtamy
- S.C. Cohen
- S.F. Slaney
- S.K. Clarren
- S.K. Clarren
- S.L. Kinsman
- S.L.H. Davenport
- T. Aracena
- T.H. Kirkham
- T.H. Kirkham
- T.H. Kirkham
- T.I. Bertelsen
- T.P. Naidich
- Treacher Collins Syndrome Collaborative Group.
- U. Schell
- V. Ossipoff
- V. Pingault
- V.A. McKusick
- W. DeMeyer
- W. Fonseca
- W.-J. Park
- W.C. Grabb
- W.E. DeMeyer
- W.F. Hickey
- W.I. Fraser
- W.J. Park
- W.N.P. Herbert
- W.Y. Hoffman
- X. Li
- Y. Nobukuni
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study
No full text
