Auteurs
Analysis
Canada
Racine
Analysis
Canada
Exploration
Accueil
Racine
Racine

Serveur d'exploration sur les relations entre la France et l'Australie - Analysis (Canada)

Index « Auteurs » - entrée « Sara Mackay »
Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.
Sara M. Willems < Sara Mackay < Sara Magnusson Bucher  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 2.
Ident.Authors (with country if any)Title
000250 (2017) Franziska Altmüller [Allemagne] ; Christina Lissewski [Allemagne] ; Debora Bertola [Brésil] ; Elisabetta Flex [Italie] ; Zornitza Stark [Australie] ; Stephanie Spranger [Allemagne] ; Gareth Baynam [Australie] ; Michelle Buscarilli [Brésil] ; Sarah Dyack [Canada] ; Jane Gillis [Canada] ; Helger G. Yntema [Pays-Bas] ; Francesca Pantaleoni [Italie] ; Rosa Le Van Loon [Pays-Bas] ; Sara Mackay [Canada] ; Kym Mina [Australie] ; Ina Schanze [Allemagne] ; Tiong Yang Tan [Australie] ; Maie Walsh [Australie] ; Susan M. White [Australie] ; Marena R. Niewisch [Allemagne] ; Sixto García-Mi Aúr [Espagne] ; Diego Plaza [Espagne] ; Mohammad Reza Ahmadian [Allemagne] ; Hélène Cavé [France] ; Marco Tartaglia [Italie] ; Martin Zenker [Allemagne]Genotype and phenotype spectrum of NRAS germline variants.
001072 (2012) Mathilde Nizon [France] ; Céline Huber [France] ; Fabio De Leonardis [Italie] ; Rodolphe Merrina [France] ; Antonella Forlino [Italie] ; Mélanie Fradin [France] ; Beyhan Tuysuz [Turquie] ; Bassam Y. Abu-Libdeh ; Yasemin Alanay [Turquie] ; Beate Albrecht [Allemagne] ; Lihadh Al-Gazali [Émirats arabes unis] ; Sarenur Yilmaz Basaran [Turquie] ; Jill Clayton-Smith [Royaume-Uni] ; Julie Désir [Belgique] ; Harinder Gill [Irlande (pays)] ; Marie T. Greally [Irlande (pays)] ; Erkan Koparir [Turquie] ; Merel C. Van Maarle [Pays-Bas] ; Sara Mackay [Canada] ; Geert Mortier [Belgique] ; Jenny Morton [Royaume-Uni] ; David Sillence [Australie] ; Catheline Vilain [Belgique] ; Ian Young [Royaume-Uni] ; Klaus Zerres [Allemagne] ; Martine Le Merrer [France] ; Arnold Munnich [France] ; Carine Le Goff [France] ; Antonio Rossi [Italie] ; Valérie Cormier-Daire [France]Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

List of associated KwdEn.i

Nombre de
documents		Descripteur
1Accessory center
1Additional anomalies
1Adolescent
1Adult
1Alamut software
1Anomaly
1Antiporter exchanger
1Atypical hand anomalies
1Basal medium
1Broblasts
1Cant1
1Cant1 mutation
1Cant1 mutations
1Carbohydrate sulfotransferase
1Carpal bone
1Chain initiator
1Characteristic hand anomalies
1Child
1Child, Preschool
1Chst3
1Chst3 conditions
1Clinical genetics
1Clinical overlap
1Clinical spectrum
1Club feet
1Control cell lines
1Control chromosomes
1Costello Syndrome (genetics)
1Costello Syndrome (pathology)
1Delta phalanx
1Desbuquois
1Desbuquois dysplasia
1Desbuquois dysplasia type
1Diagnosis criteria
1Dislocation
1Dislocation hand anomalies
1Distal phalanx
1Distinct cant1 mutations
1Dysplasia
1Ectodermal Dysplasia (genetics)
1Ectodermal Dysplasia (pathology)
1Elbow limitation
1Epiphyseal interphalangeal anomalies
1Extra center
1Extra centers
1Facies
1Failure to Thrive (genetics)
1Failure to Thrive (pathology)
1Female
1Fourth metacarpals
1GTP Phosphohydrolases (genetics)
1Genet
1Genetic heterogeneity
1Genetic medicine
1Genetics
1Genotype
1Germ-Line Mutation
1Glycosaminoglycan chains
1Glycosyltransferase reactions
1Golgi apparatus
1Hand anomalies
1Heart Defects, Congenital (genetics)
1Heart Defects, Congenital (pathology)
1Human genetics
1Human mutation
1Humans
1Humerospinal dysostosis
1Hyaluronic
1Hyaluronic acid
1Hyaluronic acid synthesis
1Independent experiments
1Infant
1Infant, Newborn
1Istanbul university
1Joint laxity
1Male
1Medical genetics
1Membrane Proteins (genetics)
1Mental retardation
1Metacarpal
1Missense mutations
1Multiple dislocations
1Mutation
1Mutation, Missense
1Ncbi reference sequence
1Nger
1Nger dislocations
1Nonsense mutations
1Noonan Syndrome (genetics)
1Noonan Syndrome (pathology)
1Normal values
1Novel mutations
1Omani type
1Patient cells
1Phenotype
1Plasma membrane
1Protein content
1Proteoglycan
1Proteoglycan metabolism
1Proteoglycan sulfation

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Canada/Analysis

HfdIndexSelect -h $EXPLOR_AREA/Data/Canada/Analysis/Author.i -k "Sara Mackay" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Canada/Analysis/Author.i  \
                -Sk "Sara Mackay" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Canada/Analysis/biblio.hfd

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Canada
   |étape=   Analysis
   |type=    indexItem
   |index=    Author.i
   |clé=    Sara Mackay
}}
Wicri

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024