10 research outputs found
Aphasia, deafness, or mental retardation.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Ocular findings in linear sebaceous naevus syndrome.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
- Author
- A F Wright
- Arena J.F.
- Beggs A.H.
- Biancalana V.
- Bianchine J.W.
- Bouloux P.M.G.
- Boyd E.
- Coleman M.
- D T Bonthron
- E Van De Vosse
- Econs M.J.
- Ellis N.A.
- Fain P.R.
- Feener C.A.
- Fried K.
- Fried K.
- Fu Y.H.
- Gedeon A.K.
- Graham J.B.
- Gyapay G.
- Heilig R.
- Ishida Y.
- Jouet M.
- Kenwrick S.
- L Strain
- Lalloz M.R.A.
- Lathrop G.M.
- Miyazaki K.
- Ott J.
- Oudet C.
- Schrander-Stumpel C.
- Schrander-Stumpel C.
- Sleddens H.F.B.M.
- Stanier P.
- Suthers G.K.
- Suthers G.K.
- Terwilliger J.D.
- Trivier E.
- Vincent A.
- Willems P.J.
- Willems P.J.
- Winter R.
- Winter R.M.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Generalized Skeletal Abnormalities
- Author
- A. Coin
- A. Kirchgatterer
- A. Superti-Furga
- A.E. Rosenberg
- A.G. Uitterlinden
- A.G.W. Hunter
- A.W. Dunn
- B. Gay
- B.G. Dammeier
- B.L. Riggs
- B.M. Obermayer-Pietsch
- C.L. McDowell
- D. Resnick
- D. Viljoen
- D.E.C. Cole
- D.J. Amor
- D.J. Prockop
- D.L. Koller
- E. Seeman
- E.B. Singleton
- E.L. Hohmann
- F. Bamatter
- F. Birklein
- F. Liote
- F.A. Bevelaqua
- F.M. Hall
- F.W. Lafferty
- G. Jones
- G.A. Elliott
- G.E. Krassas
- G.W. McCaughan
- H. Duncan
- H. Firooznia
- H. Firooznia
- H.K. Genant
- H.K. Genant
- H.K. Genant
- H.K. Genant
- H.P. Chase
- I. Haslock
- J. Albert
- J. Heathcote
- J. Jowsey
- J. Taboulet
- J. Targovnik
- J.A. Jackson
- J.B. Perez
- J.F. Aloia
- J.G. Leroy
- J.L. Franck
- J.P. Bergh Van den
- J.W. Bianchine
- K. Katz
- K.D. MacDermot
- L. Becherini
- L. Laan Van der
- L. Masi
- L.D. Carbonare
- M. Corbett
- M. Devoto
- M. Teotia
- M.L. Briard
- M.L. Johnson
- M.M. Campos Pastor
- M.P. Banas
- N. Dalen
- N. Dalen
- N. Dalen
- N.H. Bell
- N.I. Paton
- N.L. Sharma
- N.T. Griscom
- P.J. Lee
- R. Armamento-Villareal
- R. Smith
- R.A. Bank
- R.A. Rosen
- R.B. Mazess
- R.E. Brenner
- R.F. Davis
- R.M. Javier
- S. Bolzonella
- S. Longobardi
- S.F.A. Grant
- S.G. Kirchner
- S.M. Garn
- T. Yamamoto
- V. Mavichak
- V.A. McKusick
- W. Dihlmann
- W.H. Akeson
- W.M. Clouston
- Y. Gong
- Y. Gong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2005
- Field of study
Cerebrospinal Fluid Shunts
- Author
- A. Hill
- A. Key
- A. Torkildsen
- A. Vesalius
- A.H. Ferguson
- A.L. Albright
- A.L. Amacher
- A.S. Dajani
- A.V. Kulkarni
- A.V. Lorenzo
- B. Heile
- B. Kaufman
- B. Magnaes
- B.C. Walters
- B.K. Burton
- B.M. Borgbjerg
- B.N. French
- C. Bondurant
- C. May
- C. Nilsson
- C. Rocco Di
- C. Sainte-Rose
- C. Sainte-Rose
- C. Schrander-Stumpel
- C. Stoll
- C.A. Elsberg
- C.A. Hakim
- C.B. Lumenta
- C.W. Norden
- D.A. Bickers
- D.D. Matson
- D.D. Matson
- D.J. Gower
- D.O. Karahalios
- D.W. Amundsen
- E. Fernell
- E.D. Everett
- E.L. Foltz
- F.D. Ingraham
- F.E. Nulsen
- F.M. Faraci
- F.M. Faraci
- G. Choro Di
- G. Morrison
- G.L. Rosseau
- H. Eisenberg
- H. Emerson
- H.A. Skinner
- H.F. Young
- H.L. Rekate
- H.L. Rekate
- H.L. Rekate
- H.M. Eisenberg
- I.S. Haynes
- J. Chaptal
- J. Drake
- J. Kestle
- J.C. Drye
- J.E. Scarff
- J.G. McComb
- J.H. Breasted
- J.H. Piatt
- J.H. Piatt
- J.M. Drake
- J.M. Drake
- J.W. Bianchine
- K. Tokoro
- K.S. Bierbrauer
- L. Watkins
- L.E. Davidoff
- L.M. Auer
- M. Zerah
- M.A. Fishman
- M.C. Silva da
- M.L. Hlavin
- N. Yamashita
- N.G. Dan
- O. Sato
- O. Vernet
- P. Steinbok
- P.D. Chumas
- P.D. Chumas
- P.H. Chapman
- P.J. McAllister
- P.K. Harman
- R. Whytt
- R.E. Behrman
- R.F. Spetzler
- R.G. Fisher
- R.G. Ojemann
- R.I. Davidson
- R.J. Lemire
- R.K. Hobbie
- R.W.P. Cutler
- S. Kenwrick
- S. Sgouros
- S. Shapiro
- S.C. Stein
- S.C. Stein
- S.L. Wald
- T. Baumeister
- T. Lundar
- T. Milhorat
- T.J. Iberti
- T.K. Nag
- V.C. Traynelis
- W. Hozgreve
- W. Sharpe
- W.C. Olivero
- W.E. Dandy
- W.E. Whitehead
- Y. Chiba
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study
X linked hydrocephalus and MASA syndrome.
- Author
- Affel F.
- Atashi JR, Klinz
- Bianchine J.W.
- Bickers D.S.
- Bixby J.L.
- Boyd E.
- Brocard 0 Ragage C, Vibert M
- Brummendorf T.
- Chow C.W.
- Coucke P.
- D Donnai
- Davis J.K.
- Dietrich A.
- Edwards J.H.
- Edwards J.H.
- Felsenfeld D.P.
- Fitch N.
- Fransen E.
- Fried K.
- Fryns J.P.
- Fryns J.P.
- G Van Camp
- Gareis F.J.
- Grumet M.
- Grumet M.
- Halliday J.
- Harpaz Y.
- Hlavin M.L.
- Holmes L.B.
- Holtzman R.N.N.
- Joosten E.A.J.
- Jouet M.
- Jouet M.
- Jouet M.
- Jouet M.
- Jouet M.
- Kadmon G.
- Kapernick L.
- Kelley R.I.
- Kenwrick S.J.
- Kowitz A.
- Kuhn T.B.
- Kuzniecky R.I.
- Landrieu P.
- Lemmon V.
- Lyonnet S.
- M Jouet
- Macias V.R.
- Milev P.
- Opitz J.M.
- Palmieri G.
- Reid R.A.
- Renpenning H.
- Rietschel M.
- Rogers J.G.
- Rosenthal A.
- Ruiz J.
- S Kenwrick
- Schrander-Stumpel C.
- Schrander-Stumpel C.
- Schuch U.
- Serville F.
- Sonderegger P.
- Sovik 0 Van der Hagen CB, Loken AC
- Stevenson R.E.
- Strain L.
- Thor G.
- Varadi V.
- Vits L.
- Warren M.C.
- Weckesser E.C.
- Willems P.J.
- Willems P.J.
- Willems P.J.
- Williams E.J.
- Winter R.M.
- Wong E.V.
- Yeatman G.W.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Genetics of microphthalmos
- Author
- A. Brini
- A. Denden
- A. Francheschetti
- A. Milunski
- A. Romano
- A.C. Magruder
- A.E. Krill
- A.G. Farman
- A.V. Carones
- B. Biermann
- C. Alzial
- C. Judge
- C. Judge
- C. Kupfer
- C. Melchionda
- C. Piussan
- C.-J. Thodén
- C.H. Ide
- C.H. Usher
- C.L. Dolman
- C.S. Hoyt
- C.W. Adams
- D. Hoefnagel
- D.B. Dorp van
- D.D. Michaels
- D.E. Rains
- D.H. Coover
- D.H. Loewer-Sieger
- D.J. Hopkins
- D.J. Hopkins
- D.J. Schanzlin
- D.W. MacRae
- E. Caronni
- E. Hauschild
- E. Lindstedt
- E. Passarge
- E. Torczynski
- E.B. Streiff
- E.J. Shapiro
- E.S. Azevedo
- F. Schlieter
- F.B. Walsh
- F.P. Calhoun Jr.
- G. Cennamo
- G. Koch
- G. Meyer-Schwickerath
- G. Neuhäuser
- G. Priess
- G.A. Zach
- G.B. Gruber
- G.F. Judisch
- G.O. Waring
- G.R. Fraser
- G.R. Fraser
- G.S. Willetts
- G.W. Gragg
- H. Hammami
- H. Penner
- H. Saraux
- H. Saraux
- H. Schönenberg
- H. Yoshioka
- H.-C. Fan
- H.E. Cross
- H.E. Cross
- H.E. Cross
- H.G. Goldberg
- H.J. Zeiter
- H.K. Silver
- H.S. Sugar
- H.S. Sugar
- I. Caspersen
- I. Karel
- I.E. Hussels
- I.W. Lurie
- Ishwarchandra
- J. Aicardi
- J. Aicardi
- J. Aicardi
- J. Chemke
- J. Chemke
- J. Dennis
- J. Dudgeon
- J. François
- J. François
- J. François
- J. François
- J. François
- J. François
- J. Matsoukas
- J. Pierard
- J. Schappert-Kimmijser
- J. Silver
- J.-M. Emberger
- J.-P. Gerhard
- J.-P. Gerhard
- J.A. Capella
- J.A. Majeski
- J.F. Cuendet
- J.F. Meckel
- J.G.Y. Jong de
- J.M. Bertoni
- J.M. Cantú
- J.M. Opitz
- J.O. Haines
- J.P. Goravalingappa
- J.R. Wolter
- J.V. Thomas
- J.W. Bianchine
- L. Pinsky
- L. Varnek
- L.B. Holmes
- L.D. Ginsburg
- M. Chovet
- M. Fraccaro
- M. Fára
- M. Goldberg
- M. Ishak
- M. Kadrnka-Lovren?i?
- M. Naeviforme Jessner
- M. Preus
- M. Warburg
- M. Warburg
- M. Warburg
- M. Zingirian
- M.-H. Heinemann
- M.B. Horan
- M.E. Bennett
- M.E. Kimball
- M.F. Goldberg
- M.G. Butler
- M.J. Seller
- M.J. Seller
- M.T. Corte De
- M.W. Friedman
- N. Fitch
- N. Fitch
- N.B. Harman
- N.C. Nevin
- N.C. Nevin
- N.D. Dinno
- N.D. Joshi
- N.J. Lechot
- O. Braun-Falco
- O.O. Ogunye
- P. Altmann
- P. Aula
- P. Henkind
- P. Hermann
- P. Jalbert
- P.C. Donders
- P.J. Waardenburg
- P.L. Townes
- P.M. Brandt-Hansen
- R. Bernard
- R. Bethge
- R. Mabrouck
- R. Ruiz-Maldonado
- R.A. Pagon
- R.A. Pfeiffer
- R.B. Surana
- R.D. Reinecke
- R.G. Fariello
- R.G. Weleber
- R.J. Brockhurst
- R.J. Gorlin
- R.J. Gorlin
- R.J. Gorlin
- R.J. Gorlin
- R.J. Jorgenson
- R.J. Jorgenson
- R.K. Wesley
- R.L. Kimbrough
- R.M. Freedom
- R.O. Howard
- R.W. Goltz
- R.W. Goltz
- R.W. Steele
- S. Brownstein
- S. Duke-Elder
- S. Gartner
- S. Kaffe
- S. Kapoor
- S. Kapoor
- S. Mecke
- S. Sr?e?
- S.A. Temtamy
- S.D.J. Pena
- S.H. Reisner
- S.K. Gottlieb
- T. Aracena
- U. Friedrich
- V.A. McKusick
- V.A. McKusick
- V.A. McKusick
- W. Hallermann
- W. Lenz
- W. Lohmann
- W. Poradowska
- W. Zehender
- W.A. Harms
- W.E. Nance
- W.G. Pearce
- W.S. Grizzard
- Y. Goldhammer
- Y. Masuda
- Y.E. Hsia
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study