List of bibliographic references
Number of relevant bibliographic references: 57.
[0-20] [
0 - 20][
0 - 50][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 000145 (1998) |
Frédéric Bernard ; Jean-Laurent Casanova ; Giulia Cournot ; Nada Jabado ; Jane Peake ; Sébastien Jauliac ; Alain Fischer ; Claire Hivroz | The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: A study of 13 children |
| 000168 (2009) |
| Poster Sessions |
| 000407 (2004) |
Akio Kikuchi [Japon] ; Atsushi Takeda [Japon] ; Kazuo Fujihara [Japon] ; Teiko Kimpara [Japon] ; Yusei Shiga [Japon] ; Hiroaki Tanji [Japon] ; Makiko Nagai [Japon] ; Hiroshi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon] | Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report |
| 000543 (2001) |
Joerg Meyle ; José R. Gonzáles | Influences of systemic diseases on periodontitis in children and adolescents |
| 000614 (2004) |
Renato P. Munhoz [Canada] ; Catherine Bergeron [Canada] ; Anthony E. Lang [Canada] | Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions |
| 000702 (2001) |
Rudolf Happle [Allemagne] | Genetic hair loss |
| 000853 (1978) |
Donald Mackler [États-Unis] ; Richard Schneider [États-Unis] | Achalasia in father and son |
| 000A32 (1966) |
C B Kerr ; R S Wells ; K E Cooper | Gene effect in carriers of anhidrotic ectodermal dysplasia. |
| 001310 (2005) |
J-W Kim [États-Unis] ; J P Simmer [États-Unis] ; T C Hart ; P S Hart ; M D Ramaswami ; J D Bartlett ; J C-C Hu [États-Unis] | MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta |
| 001339 (1983) |
Virginia P. Johnson ; J. Michael Mcmillin ; Thomas Aceto Jr. ; George Bruins ; George John M. | A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism |
| 001617 (1993) |
J. Bollerslev [Danemark, États-Unis] ; S. C. Marks Jr. [États-Unis] ; S. Pockwinse [États-Unis] ; M. Kassem [Danemark] ; K. Brixen [Danemark] ; T. Steiniche [Danemark] ; L. Mosekilde [Danemark] | Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis |
| 001916 (2013) |
L. Nibali [Royaume-Uni] ; A. Medlar [Royaume-Uni] ; H. Stanescu [Royaume-Uni] ; R. Kleta [Royaume-Uni] ; U. Darbar [Royaume-Uni] ; N. Donos [Royaume-Uni] | Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis |
| 002B49 (2013) |
Martyn T. Cobourne [Royaume-Uni] ; Paul T. Sharpe [Royaume-Uni] | Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition |
| 002F17 (2004) |
Alastair Wilkins [Royaume-Uni] ; Jerry M. Brown [Royaume-Uni] ; Roger A. Barker [Royaume-Uni] | SCA2 presenting as levodopa‐responsive parkinsonism in a young patient from the United Kingdom: A case report |
| 003076 (2002) |
| Poster session 7: Ataxia, chorea, drug‐induced movement disorders, myoclonus, spasticity, stereotypies, tics, tremor |
| 003111 (2011) |
S. Beiraghi [États-Unis] ; V. Leon-Salazar [États-Unis] ; Be Larson ; Mt John [États-Unis] ; Ml Cunningham [États-Unis] ; A. Petryk [États-Unis] ; Jl Lohr [États-Unis] | Craniofacial and intraoral phenotype of Robinow syndrome forms |
| 003167 (2001) |
Penny Hodge ; Bryan Michalowicz | Genetic predisposition to periodontitis in children and young adults |
| 003178 (1997) |
Thomas J. Borris ; Timothy Bandrowsky ; Andrew A. Vorono | Vestibuloplasty with a split thickness skin graft in a patient with ehlers-danlos syndrome |
| 003204 (1987) |
Jens Bollerslev [Danemark] | Osteopetrosis |
| 003372 (2004) |
Yih-Ru Wu [Taïwan] ; Guey-Jen Lee-Chen [Taïwan] ; Anthony E. Lang [Canada] ; Chiung-Mei Chen [Taïwan] ; Hsuan-Yuan Lin [Taïwan] ; Sien-Tsong Chen [Taïwan] | Dystonia as a presenting sign of spinocerebellar ataxia type 1 |
| 003426 (1976) |
J. Herrmann [États-Unis] ; P. D. Pallister [États-Unis] ; E. F. Gilbert [États-Unis] ; C. Viseskul [États-Unis] ; E. Bersu [États-Unis] ; J. C. Pettersen [États-Unis] ; J. M. Opitz [États-Unis] | Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome |
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