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

Index « Auteurs » - entrée « Beril Talim »
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Bergur Sigfusson < Beril Talim < Berit Ebert  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 3.
Ident.Authors (with country if any)Title
000883 (2016) Rikke K. J. Olsen [Danemark] ; Eliška Ko A Ková [Allemagne] ; Teresa A. Giancaspero [Italie] ; Signe Mosegaard [Danemark] ; Veronika Boczonadi [Royaume-Uni] ; Lavinija Matakovi [Autriche] ; Alice Veauville-Merllié [France] ; Caterina Terrile [Allemagne] ; Thomas Schwarzmayr [Allemagne] ; Tobias B. Haack [Allemagne] ; Mari Auranen [Finlande] ; Piero Leone [Italie] ; Michele Galluccio [Italie] ; Apolline Imbard [France] ; Purificacion Gutierrez-Rios [Royaume-Uni, Espagne] ; Johan Palmfeldt [Danemark] ; Elisabeth Graf [Allemagne] ; Christine Vianey-Saban [France] ; Marcus Oppenheim [Royaume-Uni] ; Manuel Schiff [France] ; Samia Pichard [France] ; Odile Rigal [France] ; Angela Pyle [Royaume-Uni] ; Patrick F. Chinnery [Royaume-Uni] ; Vassiliki Konstantopoulou [Autriche] ; Dorothea Möslinger [Autriche] ; René G. Feichtinger [Autriche] ; Beril Talim [Turquie] ; Haluk Topaloglu [Turquie] ; Turgay Coskun [Turquie] ; Safak Gucer [Turquie] ; Annalisa Botta [Italie] ; Elena Pegoraro [Italie] ; Adriana Malena [Italie] ; Lodovica Vergani [Italie] ; Daniela Mazzà [Italie] ; Marcella Zollino [Italie] ; Daniele Ghezzi [Italie] ; Cecile Acquaviva [France] ; Tiina Tyni [Finlande] ; Avihu Boneh [Australie] ; Thomas Meitinger [Allemagne] ; Tim M. Strom [Allemagne] ; Niels Gregersen [Danemark] ; Johannes A. Mayr [Autriche] ; Rita Horvath [Royaume-Uni] ; Maria Barile [Italie] ; Holger Prokisch [Allemagne]Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
000F52 (2015) Emily J. Todd ; Kyle S. Yau ; Royston Ong ; Jennie Slee ; George Mcgillivray ; Christopher P. Barnett ; Goknur Haliloglu [Turquie] ; Beril Talim [Turquie] ; Zuhal Akcoren [Turquie] ; Ariana Kariminejad [Iran] ; Anita Cairns ; Nigel F. Clarke [Australie] ; Mary-Louise Freckmann [Australie] ; Norma B. Romero [France] ; Denise Williams ; Caroline A. Sewry ; Alison Colley [Australie] ; Monique M. Ryan ; Cathy Kiraly-Borri ; Padma Sivadorai ; Richard J. N. Allcock ; David Beeson [Royaume-Uni] ; Susan Maxwell [Royaume-Uni] ; Mark R. Davis ; Nigel G. Laing ; Gianina RavenscroftNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
001862 (2013) Gianina Ravenscroft [Australie] ; Satoko Miyatake [Japon] ; Vilma-Lotta Lehtokari [Finlande] ; Emily J. Todd [Australie] ; Pauliina Vornanen [Finlande] ; Kyle S. Yau [Australie] ; Yukiko K. Hayashi [Japon] ; Noriko Miyake [Japon] ; Yoshinori Tsurusaki [Japon] ; Hiroshi Doi [Japon] ; Hirotomo Saitsu [Japon] ; Hitoshi Osaka [Japon] ; Sumimasa Yamashita [Japon] ; Takashi Ohya [Japon] ; Yuko Sakamoto [Japon] ; Eriko Koshimizu [Japon] ; Shintaro Imamura [Japon] ; Michiaki Yamashita [Japon] ; Kazuhiro Ogata [Japon] ; Masaaki Shiina [Japon] ; Robert J. Bryson-Richardson [Australie] ; Raquel Vaz [Australie] ; Ozge Ceyhan [États-Unis] ; Catherine A. Brownstein [États-Unis] ; Lindsay C. Swanson [États-Unis] ; Sophie Monnot [France] ; Norma B. Romero [France] ; Helge Amthor [France] ; Nina Kresoje [Australie] ; Padma Sivadorai [Australie] ; Cathy Kiraly-Borri [Australie] ; Goknur Haliloglu [Turquie] ; Beril Talim [Turquie] ; Diclehan Orhan [Turquie] ; Gulsev Kale [Turquie] ; Adrian K. Charles [Australie] ; Victoria A. Fabian [Australie] ; Mark R. Davis [Australie] ; Martin Lammens [Belgique] ; Caroline A. Sewry [Royaume-Uni] ; Adnan Manzur [Royaume-Uni] ; Francesco Muntoni [Royaume-Uni] ; Nigel F. Clarke [Australie] ; Kathryn N. North [Australie] ; Enrico Bertini [Italie] ; Yoram Nevo [Israël] ; Ekkhard Willichowski [Allemagne] ; Inger E. Silberg [Norvège] ; Haluk Topaloglu [Turquie] ; Alan H. Beggs [États-Unis] ; Richard J. N. Allcock [Australie] ; Ichizo Nishino [Japon] ; Carina Wallgren-Pettersson [Finlande] ; Naomichi Matsumoto [Japon] ; Nigel G. Laing [Australie]Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

List of associated KwdEn.i

Nombre de
documents
Descripteur
2Female
2Humans
2Infant
2Infant, Newborn
2Male
1Adult
1Amino Acid Sequence
1Blotting, Western
1Case-Control Studies
1Cells, Cultured
1Child
1Child, Preschool
1Cohort Studies
1Electron Transport
1Fibroblasts (drug effects)
1Fibroblasts (metabolism)
1Fibroblasts (pathology)
1Flavin-Adenine Dinucleotide (metabolism)
1Frameshift Mutation (genetics)
1Gene Expression Profiling
1High-Throughput Nucleotide Sequencing (methods)
1High-Throughput Nucleotide Sequencing (trends)
1Liver (drug effects)
1Liver (metabolism)
1Liver (pathology)
1Mitochondrial Diseases (drug therapy)
1Mitochondrial Diseases (genetics)
1Mitochondrial Diseases (pathology)
1Molecular Sequence Data
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency (drug therapy)
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency (genetics)
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency (pathology)
1Muscle, Skeletal (drug effects)
1Muscle, Skeletal (metabolism)
1Muscle, Skeletal (pathology)
1Mutagenesis, Site-Directed
1Neuromuscular Diseases (diagnosis)
1Neuromuscular Diseases (genetics)
1Nucleotidyltransferases (genetics)
1Pedigree
1Prenatal Diagnosis (methods)
1Prenatal Diagnosis (trends)
1Protein Binding
1RNA, Messenger (genetics)
1Real-Time Polymerase Chain Reaction
1Reverse Transcriptase Polymerase Chain Reaction
1Riboflavin (pharmacology)
1Skin (drug effects)
1Skin (metabolism)
1Skin (pathology)
1Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
1Vitamin B Complex (pharmacology)
1Young Adult

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