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Wyszukujesz frazę ""Fellmann, F."" wg kryterium: Autor


Tytuł :
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy
Autorzy :
Good, J.M.
Fellmann, F.
Bhuiyan, Z.A.
Rotman, S.
Pruvot, E.
Schläpfer, J.
Pokaż więcej
Temat :
RC666-701
ACTN2
Plakoglobin
Next-generation sequencing
Alpha-actinin-2
Arrhythmia
Diseases of the circulatory (Cardiovascular) system
Left-dominant arrhythmogenic cardiomyopathy
Case Report
Źródło :
HeartRhythm Case Reports, Vol 6, Iss 1, Pp 15-19 (2020)
HeartRhythm case reports, vol. 6, no. 1, pp. 15-19
Opis pliku :
application/pdf
Tytuł :
Points to consider for prioritizing clinical genetic testing services : a European consensus process oriented at accountability for reasonableness
Autorzy :
Severin, F.
Borry, P.
Cornel, M.C.
Daniels, N.
Fellmann, F.
Victoria Hodgson, S.
Howard, H.C.
John, J.
Kääriäinen, H.
Kayserili, H.
Kent, A.
Koerber, F.
Kristoffersson, U.
Kroese, M.
Lewis, C.
Marckmann, G.
Meyer, P.
Pfeufer, A.
Schmidtke, J.
Skirton, H.
Tranebjærg, L.
Rogowski, W.H.
Pokaż więcej
Temat :
Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi
Medical Genetics
Health Care Service and Management, Health Policy and Services and Health Economy
Policy
Źródło :
European Journal of Human Genetics
European Journal of Human Genetics; 23(6), pp 729-735 (2015)
Severin, F, Borry, P, Cornel, M C, Daniels, N, Fellmann, F, Victoria Hodgson, S, Howard, H C, John, J, Kääriäinen, H, Kayserili, H, Kent, A, Koerber, F, Kristoffersson, U, Kroese, M, Lewis, C, Marckmann, G, Meyer, P, Pfeufer, A, Schmidtke, J, Skirton, H, Tranebjærg, L, Rogowski, W H & Patch, C 2015, ' Points to consider for prioritizing clinical genetic testing services : a European consensus process oriented at accountability for reasonableness ', European journal of human genetics : EJHG, vol. 23, no. 6, pp. 729-35 . https://doi.org/10.1038/ejhg.2014.190
European Journal of Human Genetics : Ejhg, vol. 23, no. 6, pp. 729-735
European Journal of Human Genetics, 23(6), 729 - 735. Nature Publishing Group
Opis pliku :
application/pdf; Print-Electronic
Tytuł :
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Autorzy :
Dondorp, W.
de Wert, G.
Bombard, Y.
Bianchi, D.W.
Bergmann, C.
Borry, P.
Chitty, L.S.
Fellmann, F.
Forzano, F.
Hall, A.
Henneman, L.
Howard, H.C.
Lucassen, A.
Ormond, K.
Peterlin, B.
Radojkovic, D.
Rogowski, W.
Soller, M.
Tibben, A.
Tranebjaerg, L.
van El, C.G.
Cornel, M.C.
European Society of Human Genetics (ESHG), the
American Society of Human Genetics (ASHG), the
Pokaż więcej
Źródło :
European Journal of Human Genetics, 23(11), 1438 - 1450. Nature Publishing Group
Tytuł :
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
Autorzy :
Dondorp, W.
de Wert, G.
Bombard, Y.
Bianchi, D.W.
Bergmann, C.
Borry, P.
Chitty, L.S.
Fellmann, F.
Forzano, F.
Hall, A.
Henneman, L.
Howard, H.C.
Lucassen, A.
Ormond, K.
Peterlin, B.
Radojkovic, D.
Rogowski, W.
Soller, M.
Tibben, A.
van El, C.G.
Cornel, M.C.
Pokaż więcej
Źródło :
European Journal of Human Genetics : Ejhg, pp. 1-3
Opis pliku :
application/pdf
Tytuł :
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Autorzy :
Zufferey, F
Sherr, E. H
Beckmann, N. D
Hanson, E
Maillard, A. M
Hippolyte, L
Macé, A
Ferrari, C
Kutalik, Z
Andrieux, J
Aylward, E
Barker, M
Bernier, R
Bouquillon, S
Conus, P
Delobel, B
Faucett, W. A
Goin-Kochel, R. P
Grant, E
Harewood, L
Hunter, J. V
Lebon, S
Ledbetter, D. H
Martin, C. L
Männik, K
Martinet, D
Mukherjee, P
Ramocki, M. B
Spence, S. J
Steinman, K. J
Tjernage, J
Spiro, J. E
Reymond, A
Beckmann, J. S
Chung, W. K
Jacquemont, S
Addor, M. C
Arveiler, B
Belfiore, M
Bena, F
Bernardini, L
Blanchet, P
Bonneau, D
Boute, O
Callier, P
Campion, D
Chiesa, J
Cordier, M. P
Cuisset, J. M
David, A
De Leeuw, N
De Vries, B
Didelot, G
Doco-Fenzy, M
Bedu, B. D
Dubourg, C
Dupuis-Girod, S
Fagerberg, C. R
Faivre, L
Fellmann, F
Fernandez, B. A
Fisher, R
Flori, E
Goldenberg, A
Heron, D
Holder, M
Hoyer, J
Isidor, B
Jaillard, S
Jonveaux, P
Joriot, S
Journel, H
Kooy, F
le Caignec, C
Leheup, B
Lemaitre, M. -P
Lewis, S
Malan, V
Mathieu-Dramard, M
Metspalu, A
Morice-Picard, F
Mucciolo, M
Oiglane-Shlik, E
Ounap, K
Pasquier, L
Petit, F
Philippe, A
Plessis, G
Prieur, F
Puechberty, J
Rajcan-Separovic, E
Rauch, A
Renieri, A
Rieubland, C
Rooryck, C
Rötzer, K. M
Ruiter, M
Sanlaville, D
Selmoni, S
Shen, Y
Siffredi, V
Thonney, J
Vallée, L
Van Binsbergen, E
Van der Aa, N
Van Haelst, M. M
Vigneron, J
Vincent-Delorme, C
Vittoria, D
Vulto-Van Silfhout, A. T
Witwicki, R. M
Zwolinski, S. A
Bowe, A
Beaudet, A. L
Brewton, C. M
Chu, Z
Dempsey, A. G
Evans, Y. L
Garza, S
Kanne, S. M
Laakman, A. L
Lasala, M. W
Llorens, A. V
Marzano, G
Moss, T. J
Nowell, K. P
Proud, M. B
Chen, Q
Vaughan, R
Berman, J
Blaskey, L
Hines, K
Kessler, S
Khan, S. Y
Qasmieh, S
Bibb, A. L
Paal, A. M
Page, P. Z
Smith-Packard, B
Buckner, R
Burko, J
Cavanagh, A. L
Cerban, B
Snow, A. V
Snyder, L. G
Keehn, R. M
Miller, D. T
Miller, F. K
Olson, J. E
Triantafallou, C
Visyak, N
Atwell, C
Benedetti, M
Fischbach, G. D
Greenup, M
Packer, A
Bukshpun, P
Cheong, M
Dale, C
Gobuty, S. E
Hinkley, L
Jeremy, R. J
Lee, H
Luks, T. L
Marco, E. J
Martin, A. J
Mcgovern, K. E
Nagarajan, S. S
Owen, J
Paul, B. M
Pojman, N. J
Sinha, T
Swarnakar, V
Wakahiro, M
Alupay, H
Aaronson, B
Ackerman, S
Ankenman, K
Elgin, J
Gerdts, J
Johnson, K
Reilly, B
Shaw, D
Stevens, A
Ward, T
Wenegrat, J
Roberts, T. P. L.
Pokaż więcej
Temat :
Adolescent
Adult
Body Mass Index
Child
Child Development Disorders, Pervasive/diagnosis
Child Development Disorders, Pervasive/genetics
Chromosome Deletion
Chromosomes, Human, Pair 16
Developmental Disabilities/diagnosis
Developmental Disabilities/genetics
Female
Gene Order
Heterozygote
Humans
Intelligence Tests
Male
Phenotype
Syndrome
Young Adult
Copy-Number Variation
Clinical genetics
Complex traits
[SDV]Life Sciences [q-bio]
Psychiatry
Obesity
Human medicine
Źródło :
Journal of Medical Genetics
Journal of medical genetics
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Opis pliku :
application/pdf; pdf
Tytuł :
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics
Autorzy :
van El, C.G.
Cornel, M.C.
Borry, P.
Hastings, R.J.
Fellmann, F.
Hodgson, SV
Howard, H.C.
Cambon-Thomsen, A.
Knoppers, B.M.
Meijers-Heijboer, H.
Scheffer, H.
Tranebjaerg, L.
Dondorp, W.
De Wert, G.M.W.R.
Pokaż więcej
Temat :
whole-genome sequencing
recommendations
policy
Źródło :
European journal of human genetics, 21(6), 580 - 584. Nature Publishing Group
European journal of human genetics, 21(Suppl. 1), S1 - S5. Nature Publishing Group
European Journal of Human Genetics, 21(6), 580 - 584. Nature Publishing Group
European Journal of Human Genetics; Vol 21
Tytuł :
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
Autorzy :
Sen, P.
Yang, Y.
Navarro, C.
Silva, I.
Szafranski, P.
Kolodziejska, K.E.
Dharmadhikari, A.V.
Mostafa, H.
Kozakewich, H.
Kearney, D.
Cahill, J.B.
Whitt, M.
Bilic, M.
Margraf, L.
Charles, A.
Goldblatt, J.
Gibson, K.
Lantz, P.E.
Garvin, A.J.
Petty, J.
Kiblawi, Z.
Zuppan, C.
McConkie-Rosell, A.
McDonald, M.T.
Peterson-Carmichael, S.L.
Gaede, J.T.
Shivanna, B.
Schady, D.
Friedlich, P.S.
Hays, S.R.
Palafoll, I.V.
Siebers-Renelt, U.
Bohring, A.
Finn, L.S.
Siebert, J.R.
Galambos, C.
Nguyen, L.
Riley, M.
Chassaing, N.
Vigouroux, A.
Rocha, G.
Fernandes, S.
Brumbaugh, J.
Roberts, K.
Ho-Ming, L.
Lo, I.F.
Lam, S.
Gerychova, R.
Jezova, M.
Valaskova, I.
Fellmann, F.
Afshar, K.
Giannoni, E.
Muhlethaler, V.
Liang, J.
Beckmann, J.S.
Lioy, J.
Deshmukh, H.
Srinivasan, L.
Swarr, D.T.
Sloman, M.
Shaw-Smith, C.
van Loon, R.L.
Hagman, C.
Sznajer, Y.
Barrea, C.
Galant, C.
Detaille, T.
Wambach, J.A.
Cole, F.S.
Hamvas, A.
Prince, L.S.
Diderich, K.E.
Brooks, A.S.
Verdijk, R.M.
Ravindranathan, H.
Sugo, E.
Mowat, D.
Baker, M.L.
Langston, C.
Welty, S.
Stankiewicz, P.
Pokaż więcej
Temat :
Persistent Fetal Circulation Syndrome
Sequence Alignment
Databases, Genetic
Open Reading Frames
Infant, Newborn
Molecular Sequence Data
Gene Order
Infant
Article
Mutation
Amino Acid Sequence
Chromosome Mapping
Forkhead Transcription Factors
Protein Interaction Domains and Motifs
Gene Dosage
Female
Humans
Male
Źródło :
Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)
Human Mutation, vol. 34, no. 6, pp. 801-811
Opis pliku :
application/pdf
Tytuł :
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation
Autorzy :
Kichine, E.
Rozé, V.
Di Cristofaro, J.
Taulier, D.
Navarro, A.
Streichemberger, E.
Decarpentrie, F.
Metzler-Guillemain, Catherine
Lévy, Nicolas
Chiaroni, J.
Paquis-Flucklinger, V.
Fellmann, F.
Mitchell, Michael J.
Pokaż więcej
Temat :
[SDV.GEN]Life Sciences [q-bio]/Genetics
[ SDV.GEN ] Life Sciences [q-bio]/Genetics
Źródło :
Human Reproduction, Oxford University Press (OUP), 2012, 27 (2), pp.615-624
Tytuł :
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Autorzy :
Walters, R. G.
Jacquemont, S.
Valsesia, A.
de Smith, A. J.
Martinet, D.
Andersson, J.
Falchi, M.
Chen, F.
Andrieux, J.
Lobbens, S.
Delobel, B.
Stutzmann, F.
Moustafa, J. S. El-Sayed
Chevre, J.-C.
Lecoeur, C.
Vatin, V.
Bouquillon, S.
Buxton, J. L.
Boute, O.
Holder-Espinasse, M.
Cuisset, J.-M.
Lemaitre, M.-P.
Ambresin, A.-E.
Brioschi, A.
Gaillard, M.
Giusti, V.
Fellmann, F.
Ferrarini, A.
Hadjikhani, N.
Campion, D.
Guilmatre, A.
Goldenberg, A.
Calmels, N.
Mandel, J.-L.
Le Caignec, C.
David, A.
Isidor, B.
Cordier, M.-P.
Dupuis-Girod, S.
Labalme, A.
Sanlaville, D.
Beri-Dexheimer, M.
Jonveaux, P.
Leheup, B.
Ounap, K.
Bochukova, E. G.
Henning, E.
Keogh, J.
Ellis, R. J.
MacDermot, K. D.
van Haelst, M. M.
Vincent-Delorme, C.
Plessis, G.
Touraine, R.
Philippe, A.
Malan, V.
Mathieu-Dramard, M.
Chiesa, J.
Blaumeiser, B.
Kooy, R. F.
Caiazzo, R.
Pigeyre, M.
Balkau, B.
Sladek, R.
Bergmann, S.
Mooser, V.
Waterworth, D.
Reymond, A.
Vollenweider, P.
Waeber, G.
Kurg, A.
Palta, P.
Esko, T.
Metspalu, A.
Nelis, M.
Elliott, P.
Hartikainen, A.-L.
McCarthy, M. I.
Peltonen, L.
Carlsson, L.
Jacobson, P.
Sjostrom, L.
Huang, N.
Hurles, M. E.
O'Rahilly, S.
Farooqi, I. S.
Maennik, K.
Jarvelin, M.-R.
Pattou, F.
Meyre, D.
Walley, A. J.
Coin, L. J. M.
Blakemore, A. I. F.
Froguel, P.
Beckmann, J. S.
Pokaż więcej
Temat :
MICRODELETION
CIRCULAR BINARY SEGMENTATION
MULTIDISCIPLINARY SCIENCES
INDIVIDUALS
AUTISM
Science & Technology
COPY NUMBER VARIATION
CHILDHOOD OBESITY
RISK LOCI
Science & Technology - Other Topics
GENOME-WIDE ASSOCIATION
MENTAL-RETARDATION
FRAMESHIFT MUTATION
Human medicine
Źródło :
463
Opis pliku :
pdf
Tytuł :
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats
Autorzy :
Stankiewicz, P.
Kulkarni, S.
Dharmadhikari, A.V.
Sampath, S.
Bhatt, S.S.
Shaikh, T.H.
Xia, Z.
Pursley, A.N.
Cooper, M.L.
Shinawi, M.
Paciorkowski, A.R.
Grange, D.K.
Noetzel, M.J.
Saunders, S.
Simons, P.
Summar, M.
Lee, B.
Scaglia, F.
Fellmann, F.
Martinet, D.
Beckmann, J.S.
Asamoah, A.
Platky, K.
Sparks, S.
Martin, A.S.
Madan-Khetarpal, S.
Hoover, J.
Medne, L.
Bonnemann, C.G.
Moeschler, J.B.
Vallee, S.E.
Parikh, S.
Irwin, P.
Dalzell, V.P.
Smith, W.E.
Banks, V.C.
Flannery, D.B.
Lovell, C.M.
Bellus, G.A.
Golden-Grant, K.
Gorski, J.L.
Kussmann, J.L.
McGregor, T.L.
Hamid, R.
Pfotenhauer, J.
Ballif, B.C.
Shaw, C.A.
Kang, S.H.
Bacino, C.A.
Patel, A.
Rosenfeld, J.A.
Cheung, S.W.
Shaffer, L.G.
Pokaż więcej
Temat :
Abnormalities, Multiple/genetics
Child
Child, Preschool
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 10
DNA Copy Number Variations
Developmental Disabilities/complications
Developmental Disabilities/genetics
Female
Genetic Variation
Homologous Recombination
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability/complications
Intellectual Disability/genetics
Male
Nerve Growth Factors/genetics
Oligonucleotide Array Sequence Analysis
Penetrance
Segmental Duplications, Genomic/genetics
Sequence Deletion
Vesicular Acetylcholine Transport Proteins/genetics
Article
Źródło :
Human Mutation, vol. 33, no. 1, pp. 165-179
Opis pliku :
application/pdf
Tytuł :
16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Autorzy :
Zufferey, F.
Martinet, D.
Osterheld, M.C.
Niel-Bütschi, F.
Giannoni, E.
Schmutz, N.B.
Xia, Z.
Beckmann, J.S.
Shaw-Smith, C.
Stankiewicz, P.
Langston, C.
Fellmann, F.
Pokaż więcej
Źródło :
Pediatric Critical Care Medicine, vol. 12, no. 6, pp. e427-e432
Opis pliku :
application/pdf

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