8 research outputs found
Evidence to Suggest That Expression of MITF Induces Melanocyte Differentiation and Haploinsufficiency of MITF Causes Waardenburg Syndrome Type 2A
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
No full textThe mouse mutant Polydactyly Nagoya (Pdn) defines a novel allele of the zinc finger gene Gli3
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textSepto-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
- Author
- Baldwin C.T.
- Baldwin C.T.
- Baldwin C.T.
- Brook C.G.
- de Morsier G
- Farrer L.A.
- Foy C.
- Hol F.A.
- Hoth C.F.
- J H Asher
- J W Innis
- JH Jr, Asher
- JH Jr, Asher
- Klein D.
- Krawczak M.
- Lalwani A.K.
- M L Carey
- Morell R.
- Morell R.
- Morell R.
- Pandya A.
- Shapiro M.B.
- T B Friedman
- Tassabehji M.
- Tassabehji M.
- Tassabehji M.
- Tassabehji M.
- Tassabehji M.
- Vidaud M.
- Waardenburg P.J.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textA frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
- Author
- B C Hamel
- Baldwin C.T.
- Begleiter M.L.
- Burri M.
- Butt J.
- Carezani-Gavin M.
- Chatkupt S.
- Chatkupt S.
- Copp A.J.
- Da-Silva E.O.
- E C Mariman
- Estibeiro J.P.
- F A Hol
- F G Barr
- Goulding M.D.
- Hoth C.F.
- Konyukhov B.V.
- Lyon M.F.
- M P Geurds
- M De Saxe
- Mariman E.C.M.
- Miller S.A.
- Moase C.E.
- Moline M.L.
- Morell R.
- Morell R.
- Narod S.A.
- R A Macina
- R A Mullaart
- Tassabehji M.
- Tassabehji M.
- true
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textA hamster-human subchromosomal hybrid cell panel for chromosome 2
- Author
- A. F. Thompson
- A. K. Sandhu
- A. Steinkasserer
- A.J. Coffey
- A.P. Monaco
- C. Abbott
- C.A. Pritchard
- C.F. Hoth
- C.G. Cole
- C.T. Falk
- D. Pinkel
- D.L. Nelson
- D.R. Cox
- D.R. Cox
- E.D. Green
- E.D. Green
- F. Benham
- F. Florian
- G. P. Kaur
- G. Weeda
- G.P. Kaur
- G.P. Kaur
- J.F. Gusella
- K. Ishizaki
- M. Hafezparast
- M.Z. Zdzienicka
- N.K. Spurr
- P. A. Jeggo
- P. Liu
- P.A. Jeggo
- P.A. Jeggo
- P.E. Purdue
- P.J. Goodfellow
- P.J. Saxon
- R. Anand
- R. S. Athwal
- R.S. Athwal
- R.S. Athwal
- S. Graw
- S. Theune
- S.A. Ledbetter
- S.A. Ledbetter
- S.F. Dowdy
- S.J. Goss
- T.S. Siden
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textOpposing Effects of Aluminum on Inward-Rectifier Potassium Currents in BeanRoot-Tip Protoplasts
- Author
- A. Akeson
- A. Amtmann
- B. Etherton
- B. Hille
- B. Hille
- C.D. Foy
- C.D. Foy
- C.F. Baes
- D.P. Schachtman
- E.M. Fenwick
- E.P. Spalding
- F.J.M. Maathius
- G.P. Olivetti
- H. Bihler
- H. Bihler
- J. R. Cumming
- J.I. Schroeder
- J.I. Schroeder
- J.R. Cumming
- J.R. Cumming
- K.A. Fairley-Grenot
- K.L. Dennison
- L.H. Wegner
- L.V. Kochian
- M. Kollmeier
- M. Sivaguru
- M. T. Nelson
- M.A. Piñeros
- M.R. Blatt
- N. Ilan
- O.P. Hamill
- P.M. Bertsch
- P.R. Ryan
- R.E. Hirsch
- R.J. Davenport
- S. Hoth
- S.C. Miyasaka
- S.J. Ahn
- S.J. Zheng
- T. J. Heppner
- T.B. Kinraide
- T.B. Kinraide
- T.B. Kinraide
- T.B. Kinraide
- U. Yermiyahu
- U. Yermiyahu
- V. Demidchik
- W. Gassmann
- W.H. Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- 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
