7 research outputs found
Johanson-Blizzard syndrome
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textHypomelanosis of Ito: a manifestation of mosaicism or chimerism.
- Author
- A P Read
- Book J.A.
- C McKeown
- Carey J.C.
- Chemke J.
- D Donnai
- David M.
- Dewald G.
- Ellis JR, Marshall
- Ferrier P.
- Findlay G.H.
- Fryns J.P.
- Fulton A.B.
- Graham J.M.
- Groshans E.M.
- Happle R.
- Happle R.
- Happle R.
- Ito M.
- Jackson R.
- Jeffreys A.J.
- Jelinek J.E.
- Jenkins M.E.
- l6 Schmid W
- Lejeune J.
- lx Sacrez R
- Maniatis T.
- McLaren A.
- Niebuhr E.
- Pettenati M.J.
- Quiroz E.
- Rott H.D.
- Rubin M.B.
- Schwartz M.F.
- T Andrews
- Takematsu H.
- Tharapel A.T.
- Thomas I.T.
- Turleau C.
- van den Berghe H
- Wettke-Schafer R.
- Wittwer B.B.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full textChondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)
- Author
- A. Daniele
- A. K. Mayden
- A. Kolb-Mäurer
- A. Sigirci
- A.B. Metzemberg
- A.J. Khanna
- A.L. White
- A.M. Bams-Mengerink
- A.M. Motley
- B. Franco
- B.S. Hertzberg
- C. Hünermann
- C. Stoll
- C.M. Hall
- D. I. Williams
- D. Valle
- D.C. Kalter
- D.K. Grange
- E. Conradi
- H.A.S. Heymans
- I. Pascual-Castroviejo
- J. Zizka
- J.M. Derry
- J.M. Milunsky
- J.M. Powers
- J.W. Spranger
- J.W. Spranger
- K.M. Brookhyser
- L. J. Sheffield
- L. Sztriba
- L.J. Sheffield
- M. Basbug
- M. Ponec
- M.C. Silengo
- M.L. Williams
- M.M. Cohen Jr
- M.P. Hoang
- N. Braverman
- N. Braverman
- P. Duff
- P.E. Purdue
- R. Happle
- R. Happle
- R. Happle
- R. Happle
- R. Happle
- R. Happle
- R. Happle
- R. L. De
- R. Ofman
- R. Savarirayan
- R. Sutphen
- R. Wettke-Schafer
- R.G.F. Gray
- R.I. Kelley
- R.J. Wanders
- R.S. Lachman
- R.S. Lachman
- S. Ikegawa
- S. Ikegawa
- S. Kumada
- S. Silve
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study
No full textXq26.3 Microdeletion in a Male with Wildervanck Syndrome
- Author
- Abu-Amero KK
- Abu-Amero KK
- Al-Baradie R
- Altaf A. Kondkar
- Arif O. Khan
- Balci S
- Barald KF
- Bok J
- Brodsky MC
- Chisaka O
- Clarke RA
- Cremers CW
- Darren T. Oystreck
- Di Maio L
- Franco B
- Gartler SM
- Gecz J
- Goldfarb M
- Guillemot F
- Gupte G
- Haciyakupoglu G
- Ibrahim A. Alorainy
- Johnson NA
- Khaled K. Abu-Amero
- Kohlhase J
- Kohlhase J
- Kumar A
- Kumar A
- Leila A. Al-Enazy
- Lowry RB
- Miller MT
- Morleo M
- Oe K
- Schneider-Maunoury S
- Smallwood PM
- Strisciuglio P
- Thomas M. Bosley
- Wettke-Schafer R
- Wildervanck LS
- Wu QF
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
No full textAbnormal Tissue Growth
- Author
- AE Rubenstein
- AG Knudson Jr
- AM Chonko
- AR Rushton
- AS Glushien
- AY Barakat
- B Samuelsson
- C Pernot
- CM Elliott
- DF Young
- DG Hope
- DL Tilford
- ER Fisher
- F Vogel
- FB Stapleton
- FW Crowe
- GA Liebler
- GC Rosenquist
- GH Watson
- H Feigenbaum
- HA McAllister Jr
- HE Aldridge
- HE Zoethout
- HH McAllister Jr
- HL Neiman
- HP Monoghan
- IT Lott
- J Dawson
- J Gutierrez de Loma
- JB Carter
- JB Howell
- JC Carey
- JC Lagos
- JE Kleid
- JE Powers
- JF Goodwin
- JF Holt
- JH Deeken
- JJ Fenoglio Jr
- JL Bass
- JM Reyes
- JR Stradling
- JV Thomas
- KH Proppe
- LE Wille
- LE Wold
- M Gomez
- M Gunter
- M Halpern
- M Lamy
- M Larregue
- M Mata
- M Pentecost
- M Schweizer-Cagianut
- MG Farah
- MS Berberich
- NC Nevin
- NL Kuntz
- P Siltanen
- R Happle
- R Ruiz-Maldonado
- R Wettke-Schafer
- RJ Gorlin
- RJ Gorlin
- RL Kaufman
- RW Goltz
- RW Goltz
- S Krause
- S Milner
- S Pung
- TA Tomsick
- TB Fitzpatrick
- TR Taylor
- V Kolff
- VM Riccardi
- W Wertelecki
- WH Burgdorf
- WH Heydorn
- WM Mauger
- WP Harvey
- WR Deans
- WR Salyer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1987
- Field of study
No full textThe Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease
- Author
- Amouroux C
- Appukuttan B
- Aubourg P
- Barry JS
- Bosley TM
- Bosley TM
- Calabrese G
- Carolyn P. Graeber
- Carta A
- Cederquist GY
- Chan WM
- Chew S
- Chung M
- David G. Hunter
- Demer JL
- Demer JL
- Demer JL
- Duane A
- Elizabeth C. Engle
- Engle EC
- Engle EC
- Engle EC
- Evans JC
- Holve S
- Hotchkiss MG
- Jen JC
- Khan AO
- Kohlhase J
- Kohlhase J
- Kothari M
- Laughlin RC
- Lehman AM
- Lin LK
- Lu S
- Luo H
- Marshman WE
- Miller G
- Miller MT
- Miller NR
- Miyake N
- Miyake N
- Murillo-Correa CE
- Nakano M
- Pastuszak AL
- Pizzuti A
- Rickard S
- Sener EC
- Sevel D
- Sharpe JA
- Terhal P
- Tischfield MA
- Tischfield MA
- Traboulsi EI
- Tukel T
- Vincent C
- Volk AE
- Volk AE
- Wang SM
- Webb BD
- Wettke-Schafer R
- Yamada K
- Yamada K
- Yang X
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
No full textX linked mental retardation.
- Author
- Abbassi V.
- Aitkin J.F.
- Al-Mateen M.
- Allan W.
- Arena J.
- Arveiler B.
- Baar H.S.
- Ballabio A.
- Baraitser M.
- Bawle E.
- Bergia B.
- Berry C.
- Betoni J.M.
- Blanchine J.W.
- Brown W.T.
- Brun A.
- Bundey S.
- Bundey S.
- Bundey S.
- Cantu J.M.
- Carney R.G.
- Chowcheck F.S.
- Christian J.C.
- Chudley A.E.
- Clark R.D.
- Cremers F.P.M.
- Crolla J.
- Danks D.M.
- Davis J.G.
- Davison B.C.C.
- Dereymaeker A.M.
- Diaz J.M.
- Dlouhy SR, Christian
- Donnai D.
- Donnenfeld A.E.
- Edwards J.H.
- El Traboulsi
- Elwood J.H.
- Fox P.
- Fryns J.P.
- Gal A.
- Gardner R.J.M.
- Gareis F.J.
- Glass I.A.
- Golabi M.
- Goldblatt J.
- Gustavson K.H.
- Hagburg B.
- Hagerman R.
- Halliday J.
- Hanauer A.
- Herbst D.S.
- HK Son Blomquist
- Hodgson S.V.
- Holmes L.B.
- Holtzman R.
- Hoo J.J.
- Hunter A.G.W.
- I A Glass
- Juberg R.C.
- Kaplan P.
- Kemper M.B.
- Laxova R.
- Lehrke R.G.
- Lehrke R.G.
- Lubs H.A.
- Lujan J.E.
- Lutz R.
- MacKinnon R.N.
- Martin J.P.
- Marxmiller J.
- Mathews K.D.
- Mattei J.F.
- McKusick V.A.
- McQueen P.C.
- Menkes J.H.
- Miles J.H.
- Morton N.E.
- Moser H.W.
- Mulley J.C.
- Munke M.
- Neri G.
- Opitz J.M.
- Opitz J.M.
- Opitz J.M.
- Organization World Health
- Organization World Health
- Paine R.S.
- Pallister P.D.
- Partington M.W.
- Penrose L.S.
- Porteous M.E.M.
- Prieto F.
- Reed E.W.
- Reilly D.S.
- Renier W.O.
- Richards B.W.
- Richards W.
- Ruiz-Maldonado R.
- Samanns C.
- Schimke R.N.
- Schmidley J.W.
- Schwartz C.E.
- Scott C.R.
- Seemanova E.
- Sefiani A.
- Sefiani A.
- Sherman S.L.
- Sherman S.L.
- Sim K.B.
- Smith R.D.
- Stephenson L.D.
- Sutherland G.R.
- Sutherland G.R.
- Sutherland G.R.
- Suthers G.
- Suthers G.K.
- Suthers G.K.
- Suthers G.K.
- Suthers G.K.
- Sved J.A.
- Thompson E.
- Toriello H.V.
- Tranebiaerg L.
- Turner G.
- Turner G.
- Turner G.
- Vasquez S.B.
- Wada M.
- Warburg M.
- Watty A.
- Wechsler M.A.
- Wettke-Schafer R.
- Wieacker P.
- Wieacker P.
- Wilkie A.M.O.
- Willems P.J.
- Willems P.J.
- Winter R.M.
- Wortis H.
- Yeatman G.W.
- Young I.D.
- Young I.D.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
No full text
