4 research outputs found
Waardenburg syndrome and myelomeningocele in a family.
- Author
- 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 textAbsence of linkage between familial neural tube defects and PAX3 gene.
- Author
- B C Hamel
- Baldwin C.T.
- Baraitser M.
- Bennett D.
- Bodmer W.F.
- Campbell L.R.
- Carezani-Gavin M.
- Carter C.O.
- Carter C.O.
- Chalepakis G.
- Chatkupt S.
- Chatkupt S.
- Chatkupt S.
- Clerget-Darpoux F.
- Demenias M.
- E C Mariman
- E S Stenroos
- Edmonds L.D.
- Epstein D.J.
- F A Hol
- Farag T.I.
- Fellous M.
- Fineman R.M.
- Goulding M.D.
- Khoury M.J.
- Lander E.S.
- Lathrop G.M.
- Lorber J.
- M P Geurds
- M R Koenigsberger
- Mariman E.C.M.
- Moase C.E.
- Moline M.L.
- Nevin N.C.
- Nora J.J.
- Ott J.
- Ott J.
- Pericak-Vance M.A.
- Risch N.
- S Chatkupt
- Sambrook J.
- Seller M.J.
- Sever L.E.
- Shaffer L.G.
- Stapleton P.
- Tassabehji M.
- Toriello H.V.
- Toriello H.V.
- Toriello H.V.
- Verheij J.B.G.M.
- W G Johnson
- Wilcox E.R.
- Williamson E.M.
- Y Y Shugart
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textMouse Models of Neural Tube Defects.
- Author
- A Auden
- A Dady
- A Fleming
- A Fleming
- A Kujat
- A Marean
- A Narisawa
- A Parle-McDermott
- A Paudyal
- A Reynolds
- A Robinson
- A Rolo
- A Rolo
- A Rolo
- A Wang
- AE Beaudin
- AE Beaudin
- AE Beaudin
- AE Sutherland
- AG Bassuk
- AG Bassuk
- AG Jacobson
- AJ Copp
- AJ Copp
- AJ Copp
- AJ Copp
- AJ Copp
- AJ Ross
- AL Boyles
- AS Menzies
- AS Shum
- AS Tibbetts
- BG Kousseff
- BJ Wlodarczyk
- BS Mosley
- C Kappen
- C Pyrgaki
- C Pyrgaki
- CF Hoth
- CM Bosoi
- CP Chen
- CP Chen
- CP Chen
- CP Chen
- CP Chen
- CP Heisenberg
- CT Baldwin
- CV Logan
- D Gerrelli
- D Qian
- D Wei
- DA Hackett
- DA Hertzler II
- DB Wilson
- DL Cockroft
- DL Cockroft
- DM Juriloff
- DM Juriloff
- DM Juriloff
- DM Juriloff
- DM Juriloff
- DM Panchision
- DN Thompson
- DS Eom
- DS Eom
- DS Eom
- E Nikolopoulou
- E Torban
- EA Carroll
- EA Jones
- EA Reece
- EA Reece
- EJ Lammer
- EK Vladar
- EM McGreevy
- EO da-Silva
- ER Detrait
- ER Eichers
- F Kharfallah
- FA Hol
- FA Poletta
- FB Essien
- G Morriss-Kay
- GC Schoenwolf
- GC Schoenwolf
- GL Galea
- GS Ducker
- H Birn
- H Chang
- H Chi
- H Kinoshita
- H Li
- H Morita
- H Yu
- H Zeng
- HB Heseker
- HJ Blom
- HJ Ray
- HJ Ray
- HV Toriello
- HW Straaten van
- I Kirillova
- IE Zohn
- IE Zohn
- IE Zohn
- IJ Linden van der
- IS Alvarez
- J Bentham
- J Briscoe
- J Caddy
- J Gelineau-van Waes
- J Gelineau-van Waes
- J Hart
- J Kim
- J Merte
- J Momb
- J Wang
- J Williams
- J Wu
- JA Curtin
- JA Evans
- JA Geelen
- JA McMahon
- JA Piedrahita
- JA Sabatino
- JB Wallingford
- JB Wallingford
- JB Wallingford
- JB Wallingford
- JD Bryant
- JD Gray
- JD Gray
- JD Gray
- JD Hildebrand
- JD Lee
- JD Moury
- JF Colas
- JH Seo
- JJ Wilde
- JL Smith
- JM Burgoon
- JN Murdoch
- JN Murdoch
- JN Murdoch
- JN Murdoch
- JP Barbera
- JP Mahaffey
- JS Nye
- K Doudney
- K Maclean
- K McDole
- K Oyama
- KA Burren
- KA Burren
- KE Christensen
- KJ Denny
- KJ Denny
- KM Laurence
- KM Laurence
- KS Au
- L Martiniova
- L Wang
- LA Davidson
- LE Mitchell
- LE Mitchell
- LJ Smith
- LM Lanier
- LP Dunlevy
- M Beaumont
- M Carezani-Gavin
- M Carter
- M Holmes-Siedle
- M Ishida
- M Khandelwal
- M Noventa
- M Saxe de
- M Tada
- M Toriyama
- M Wang
- M Werth
- M Williams
- M Yang
- MA Honein
- MI Allen Van
- MJ Harrington
- MJ Harris
- MJ Harris
- MJ Harris
- MJ Harris
- MJ Seller
- MJ Seller
- MJ Seller
- MJ Solloway
- MK Heid
- MK Kooistra
- ML Begleiter
- ML Moline
- MP Wilson
- MR Brouns
- MS Dias
- MT Canda
- N Alata Jimenez
- N Escobedo
- N Kinoshita
- N Risch
- N Risch
- N Wald
- N Yang
- ND Greene
- ND Greene
- ND Greene
- ND Greene
- ND Greene
- ND Greene
- ND Greene
- NS Adzick
- NS Adzick
- NS Hamblet
- O Spiegelstein
- OA Balashova
- OA Pantke
- OY Shi
- P Cavalli
- P Cavalli
- P Cavalli
- P Cavalli
- P Cogram
- P Gustavsson
- P Lemay
- P Lemay
- P Lemay
- P Marco De
- P Marco De
- P Oakeshott
- P Ybot-Gonzalez
- P Ybot-Gonzalez
- P Ybot-Gonzalez
- PE Neumann
- PJ Lupo
- PM Groenen
- PN Kirke
- Q Zhang
- Q Zhao
- R Allache
- R Korstanje
- R Massarwa
- R Massarwa
- R Zhao
- RA Sausedo
- RE Nickel
- RE Nickel
- RG Vergel
- RH Bahous
- RH Finnell
- RH Shah
- RJ Berry
- RJ Hudgins
- RL Wong
- RM Cabrera
- RM Cabrera
- RS Gray
- RW Smithells
- RW Smithells
- RW Smithells
- RW Stottmann
- RW Stottmann
- S Chatkupt
- S Ernest
- S Escuin
- S Forrester
- S Lin
- S Sudiwala
- S Taparia
- S Wang
- S Yamada
- S Zabihi
- SB Ting
- SC Castro De
- SCP Castro De
- SD Weatherbee
- SE Kim
- SE Parker
- SH Shim
- SH Zeisel
- SL Etheridge
- SL Haigo
- SN Bay
- SP Rothenberg
- T Caspary
- T Castranio
- T Nishimura
- T Nishimura
- TE Schroeder
- TF Plageman Jr
- TF Plageman Jr
- VA Letts
- W Heydeck
- W Heydeck
- W Lin
- X Gu
- X Lu
- Y Dong
- Y Lei
- Y Lei
- Y Lei
- Y Rifat
- Y Shi
- Y Wang
- Y Wang
- Y Yamaguchi
- YJ Pai
- YP Lei
- Z Chen
- Z Chen
- Z Chen
- Z Kibar
- Z Kibar
- Z Kibar
- Z Wang
- Z Wang
- Z Yu
- ZA Abdelhamed
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2020
- Field of study
No full text
