10 research outputs found
Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Between tradition and innovation in new genetics: The continuity of medical pedigrees and the development of combination work in the case of Huntington's disease
- Author
- Bell J.
- Bennett R.L.
- Carr-Saunders A.M.
- Chadarevian S.D.
- Conrad P.
- Davenport C.B.
- Davenport C.B.
- Davenport C.B.
- Davenport C.B.
- Fisher D.
- Frankel M.S.
- Gaudillire J.-P.
- Harper P.
- Jellife S.E.
- Kuhn T.S.
- Laughlin H.H.
- Laughlin H.H.
- Leal-Pock C.
- MacKenzie D.A.
- Mazumdar P.M.H.
- Muncey E.B.
- Munson J.F.
- Nukaga Y.
- Oliver C.P.
- Punnett R.C.
- Rabinow P.
- Reed S.C.
- Reiser S.J.
- Rushton A.R.
- Wertz D.
- Wexler A.
- Wexler N.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
- Author
- A Tello
- AT De Souza
- AT De Souza
- Behmel A.
- C Galoppo
- E De Matteo
- Garganta C.L.
- Golabi M.
- Harrod M.J.
- Hughes-Benzie R.
- Hughes-Benzie R.M.
- Hughes-Benzie R.M.
- I Badia
- J Grichener
- Jones K.L.
- Martelli C.
- McGoldrick J.P.
- Opitz J.M.
- Orth U.
- P Lapunzina
- P Silberman
- Pilia G.
- Punnett H.H.
- R Hughes-Benzie
- Simpson J.L.
- Taybi H.
- Terespolsky D.
- true
- Weksberg R.
- Wiedemann H.R.
- Wilfong A.A.
- Xuan J.Y.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Isolation and characterization of human factor IX cDNA: Identification of Taq I polymorphism and regional assignment
- Author
- A. Maxam
- A.K. Sood
- C.J.S. Edgell
- C.M. Jackson
- D. Barker
- D. Hanahan
- D.L. Whittaker
- Don E. Lavelle
- E. Southern
- F.P. Haseltine
- G. Camerino
- G. Camerino
- H.H. Punnett
- J. Neuschartz
- K. Katayama
- K. Kurachi
- K.H. Choo
- M. Jaye
- M.D. Matteucci
- M.D. Matteucci
- N. Blinn
- P. Jagadeeswaran
- P.A. McKee
- P.W.J. Rigby
- Pudur Jagadeeswaran
- R.A. Spritz
- R.G. DiScipio
- Rajinder Kaul
- S.L. Beaucage
- Stephen T. Warren
- T. Chandra
- T. Maniatis
- T. Mohandas
- T. Mohandas
- U. Hedner
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A case of partial trisomy 22 resulting from maternal 11/22 translocation
- Author
- A. Pérez-Castillo
- B.S. Emanuel
- D.A. Welter III
- D.S. Borgaonkar
- E.M. Bühler
- F. Mollica
- G.M. Feldman
- H. Zellweger
- H.H. Punnett
- H.N. Bass
- Hideo Inoue
- Hiroshi Kimoto
- I. Matsui
- J. Cervenka
- J.A. Uchida
- J.A. Uchida
- J.L. Taillemite
- K. Hirschhorn
- K.H. Gustavson
- Kouji Narahara
- L. Iselius
- L.Y.F. Hsu
- M.G. Vianello
- M.H.K. Shokeir
- M.K. Bofinger
- M.L. Begleiter
- M.N. McIntyre
- Motoji Kamoi
- O.S. Alfi
- P. Garlinger
- R.M. Goodman
- S. Lalchev
- Shunsuke Kimura
- T. Kadotani
- V.B. Penchaszadeh
- Y. Nakai
- Yoshifumi Kodama
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Point Mutations in the Steroid-Binding Domain of the Androgen Receptor Gene of Five Japanese Patients with Androgen Insensitivity Syndrome.
- Author
- Bourguet W., Ruff, M., Chambon, P., Gronemeyer, H. &
- Brown T.R., Lubahn, D.B., Wilson, E.M., French, F.S., Migeon, C.J. &
- Chang C., Saltzman, A., Yeh, S., Young, W., Keller, E., Lee, H.J., Wang, C. &
- Green S., Walter, P., Kumar, V., Krust, A., Bornert, J.M., Argos, P. &
- Griffin J.E. &
- Jagiello G. &
- Lubahn D.B., Brown, T.R., Simental, J.A., Higgs, H.N., Migeon, C.J., Wilson, E.M. &
- Lubahn D.B., Joseph, D.R., Sar, M., Tan, J., Higgs, H.N., Larson, R.E., French, F.S. &
- McPhaul M.J., Marcelli, M., Zoppi, S., Wilson, C.M. &
- Nakao R., Haji, M., Yanase, T., Ogo, A., Takayanagi, R., Katsube, T., Fukumaki, Y. &
- Pinsky L., Trifiro, M., Kaufman, M., Beitel, L.K., Mhatre, A., Kazemi-Esfarjani, P., Sabbaghian, N., Lumbroso, R., Alvarado, C., Vasiliou, M. &
- Shkolny D.L., Brown, T.R., Punnett, H.H., Kaufman, M., Trifiro, M.A. &
- Tsukada T., Inoue, M., Tachibana, S., Nakai, Y. &
- Wahli W. &
- Publication venue
- 'Tohoku University Medical Press'
- Publication date
- 01/01/1999
- Field of study
Lethal congenital contracture syndrome: further delineation and genetic aspects.
- Author
- Askenazi S.S.
- Berkemeier L.E.
- Besceglia N.
- Brooke M.H.
- Brzustowicz L.M.
- Chen H.
- Choi B.H.
- Dimmink J.E.
- Dracopoli N.C.
- Eubanks J.H.
- Fisher R.A.
- Fisher R.L.
- Forger N.G.
- Garson J.A.
- Giovannini M.
- Gyr T.
- Hageman G.
- Hall J.G.
- Hanson I.M.
- Hausmanowa-Petrusewicz I.
- Hemminki K.
- Hendersson C.E.
- Herva R.
- Herva R.
- Hogben L.
- Huebner K.
- Imamura M.
- Ip N.Y.
- Itoh K.
- K Vuopala
- Kirkinen P.
- Kirkinen P.
- Laitinen 0 Hirvensalo M
- Lavi E.
- Lazjuk G.I.
- Li C.C.
- Lunt P.W.
- Mailhanes J.B.
- Maisonpierre P.C.
- Mease A.D.
- Melki J.
- Moerman P.
- Moessinger A.C.
- Munsat T.L.
- Norio R.
- Oppenheim R.W.
- Ozcelik T.
- Pena S.D.J.
- Pihkala J.
- Potter E.L.
- Punnett H.H.
- R Herva
- Rettig W.J.
- Sendtner M.
- Soares V.M.
- Stern W.G.
- Toriello H.V.
- Verloes A.
- Weight Streeter G.L.
- Weissenbach J.
- Wirth B.
- Wright E.C.
- Yan Q.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Atypical Teratoid/Rhabdoid Tumors of the Central Nervous System
- Author
- A Suzuki
- A. Aguzzi
- A. Ashkenzai
- A. Cossu
- A. Hirth
- A. Jeibmann
- A. Klochendler-Yeivin
- A. Klochendler-Yeivin
- A. Morozov
- A. Perry
- A. Rubio
- A. Sasaki
- A. Vital
- A.K. Wong
- A.R. Judkins
- A.R. Judkins
- A.T. Reddy
- A.T. Yachnis
- B. Behring
- B. Kaya
- B. Roland
- B.C. Laurent
- B.J. Fisher
- B.L. Betz
- B.S. Reincke
- C. Fernandez
- C. Haberler
- C. Lòpez-Ginés
- C. Muchardt
- C. Muchardt
- C. Rosty
- C.-L. Kao
- C.-L. Kao
- C.-L. Kao
- C.A. Griffin
- C.E. Fuller
- C.H. Rickert
- C.H. Rickert
- C.J. Guidi
- C.L. Peterson
- C.W. Roberts
- C.W.M. Roberts
- D. Alarcon-Vargas
- D. Byram
- D. Strother
- D.A. Bochar
- D.M.-T. Ho
- D.N. Korones
- D.N. Reisman
- D.P. Agamanolis
- D.W. Fort
- E. Güler
- E. Itakura
- E. Izycka-Swieszewska
- E. Kaiserling
- E. Neumann
- E. Sigauke
- E. Weiss
- E.C. Douglass
- F. Mertens
- F. Proust
- F. Zhang
- F.V. White
- G. Perilongo
- G. Schnitzler
- G. Schnitzler
- G.B. Rosson
- G.V. Kalpana
- H. Fujiisawa
- H. Fujisawa
- H. Fujisawa
- H. Hojo
- H. Horie
- H. Oka
- H. Shiratsuchi
- H. Shiratsuchi
- H. Walczak
- H.H. Punnett
- H.S. Zhang
- I. Versteege
- I. Versteege
- I.B. Lefkowitz
- I.H. Tekkök
- J. Arrazola
- J. Chai
- J. Lutterbach
- J. Pimentel
- J. Raisanen
- J. Savla
- J. Simons
- J. Wyatt-Ashmead
- J. Wyatt-Ashmead
- J.-P. Bouffard
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Biegel
- J.A. Kraus
- J.A. Parellada
- J.C. Allen
- J.C. Fanburg-Smith
- J.L. Dunaief
- J.M. Bonnin
- J.M. Hilden
- J.M. Hilden
- J.R. Sawyer
- K. Ae
- K. Janson
- K. Klopfenstein
- K. Uno
- L.A. Bruch
- L.B. Rorke
- L.B. Rorke
- L.B. Rorke
- L.B. Rorke
- L.Z. Fenton
- M. Bergmann
- M. Bhattacharjee
- M. Bhattacharjee
- M. Fu
- M. Gessi
- M. Gessi
- M. Horn
- M. Miettinen
- M. Muller
- M. Muller
- M. Rittierodt
- M. Thangavelu
- M. Tsikitis
- M. Weber
- M. Weinblatt
- M. Zakrzewska
- M.-C. Lee
- M.-F. Rousseau-Merck
- M.-F. Rousseau-Merck
- M.A. Zimmerman
- M.B. Bhattacharjee
- M.B. Michalowski
- M.C. Frühwald
- M.D. Taylor
- M.G. Norman
- M.J. Donovan
- M.L. Erickson
- M.L. Phelan
- M.R. Wick
- M.W. Strobeck
- N. Oulab Ben Taib
- N. Sévenet
- N. Sévenet
- N.C. Bambakidis
- P. Hauser
- P. Kleihues
- P. Modena
- P.A. Khavari
- P.C. Burger
- P.S. Karnes
- R. Ashraf
- R. Handgretinger
- R.D. Cohn
- R.E. Kingston
- R.G.J. Vries
- R.J. Packer
- R.P. Hasserjian
- S. Bultman
- S. Medjkane
- S. Ogino
- S. Ogino
- S. Ogino
- S. Ota
- S. Yoshida
- S.-W.G. Cheng
- S.B. Wharton
- S.E. Petersen
- S.G. Berrak
- S.I. Bannykh
- S.M. Dobin
- T. Chen
- T. Kusufuka
- T. Mori
- T. Sugimoto
- T.A.G.M. Huisman
- T.L. Howes
- W.M. Chadduck
- Y. Kuwahara
- Y. Sugita
- Y.S. Li
- Z.-K. Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study
The aetiology of the cat eye syndrome reconsidered.
- Author
- (Paris Ann Genet
- 0 Curcio
- 0 Haab
- Al Taylor
- Allderdice P.W.
- Aurias A.
- Ayraud N.
- Bass H.N.
- Beyer P.
- Biles A.R.
- Bloom G.E.
- Bofinger M.K.
- Buhler E.M.
- Bull Eur Soc Hum Genet
- Cervenka J.
- Coco R.
- Cory CC Jamison DL
- Crandall B.F.
- Darby C.W.
- de Grouchy J
- Emanuel B.S.
- Escobar J.I.
- Farah L.M.S.
- Franke U.
- Franklin R.C.
- Freedom R.M.
- Fried K.
- Friedrich U.
- Fryns J.A.
- Fuhrmann W.
- G Guanti
- Garlinger P.
- Gerald P.S.
- Gerald P.S.
- Ginsberg J.
- Giraud F.
- Giraud F.
- Grace E.
- Gustavson K.H.
- Hirschhorn K.
- Hoehn H.
- Hsu L.Y.F.
- Iselius L.
- Ishmael J.
- Jacobsen P.
- Jacobsen P.
- James P.M.L.
- Johnson L.D.
- Jotterand M.
- KDr1ug-eeirneE selWtientekocwhsrkoimosR
- Kessel E.
- Kistenmacher M.L.
- Krmpotik E.
- Kunze J.
- Kurokyi Y.
- Laurent C.
- Laurent C.
- Leisti J.
- Lejeune J.
- Lewis B.V.
- Maclntyre M.N.
- Maeda T.
- Mameli M.
- McClintock B.
- McClintock B.
- McDermott A.
- Mutchinick 0 Ruz L, Jimenez R
- Neu R.L.
- Niebuhr E.
- Nishi Y.
- Noel B.
- Noel B.
- Noel B.
- Noel B.
- Petersen R.A.
- Petit P.
- Pfeiffer R.A.
- Pierson M.
- PR De Chieri
- Punnett H.H.
- Quan L.
- Quan L.
- Reisman L.E.
- Rethore M.O.
- Rosenkrantz W.
- Rott H.D.
- Say B.
- Schachenmann G.
- Schinzel A.
- Schinzel A.
- Schmid W.
- Schwanitz G.
- Schwanitz G.
- Schwinger E.
- Sebestyen J.
- Sparkes R.S.
- Stalder G.R.
- Stoll C.
- Taft P.D.
- Taillemite J.L.
- Talvik T.
- Taysi K.
- Temtamy S.A.
- Thomas C.
- Thompson H.
- Tolksdorf M.
- Toomey K.E.
- Townes P.L.
- Tusques J.
- Warkany J.
- Weber F.M.
- Weleber R.G.
- Wilroy R.S.
- Wilson M.G.
- Wright Y.M.
- Yanagisawa S.
- Yunis J.J.
- Zackai E.
- Zellweger H.
- Publication venue
- 'BMJ'
- Publication date
- Field of study