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Academic Journal

Characterization of polydactyly chondrocytes and their use in cartilage engineering

Authors : Cavalli, Emma; Levinson, Clara; Hertl, Matthias

Subjects: Clinic for Surgery; 610 Medicine & health

Source: Cavalli, Emma; Levinson, Clara; Hertl, Matthias; Broguiere, Nicolas; Brück, Oscar; Mustjoki, Satu; Gerstenberg, Anja; Weber, Daniel; Salzmann, Gian; Steinwachs, Matthias; Barreto, Gonçalo;

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Academic Journal

NEK1 mutations cause short-rib polydactyly syndrome type majewski

Authors : Thiel, C; Kessler, K; Giessl, A

Subjects: Institute of Medical Genetics; 570 Life sciences; biology

Source: Thiel, C; Kessler, K; Giessl, A; Dimmler, A; Shalev, S A; von der Haar, S; Zenker, M; Zahnleiter, D; Stöss, H; Beinder, E; Abou Jamra, R; Ekici, A; Schröder-Kress, N; Aigner, T; Kirchner, T; Reis,

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Academic Journal

Engineering Inflammation-Resistant Cartilage: Bridging Gene Therapy and Tissue Engineering

Authors : Bonato, Angela; Fisch, Philipp; Ponta, Simone

Subjects: Clinic for Surgery; 610 Medicine & health; cartilage tissue engineering

Source: Bonato, Angela; Fisch, Philipp; Ponta, Simone; Fercher, David; Manninen, Mikko; Weber, Daniel; Eklund, Kari K; Barreto, Goncalo; Zenobi-Wong, Marcy (2023). Engineering Inflammation-Resistant

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Academic Journal

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Authors : Getwan, Maike; Hoppmann, Anselm; Schlosser, Pascal

Subjects: Institute of Anatomy; 570 Life sciences; biology

Source: Getwan, Maike; Hoppmann, Anselm; Schlosser, Pascal; Grand, Kelli; Song, Weiting; Diehl, Rebecca; Schroda, Sophie; Heeg, Florian; Deutsch, Konstantin; Hildebrandt, Friedhelm; Lausch, Ekkehart;

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Academic Journal

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

Authors : Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M

Subjects: Medical Clinic; 610 Medicine & health

Source: Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio;

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Academic Journal

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Authors : Rusterholz, Tamara D S; Hofmann, Claudia; Bachmann-Gagescu, Ruxandra

Subjects: Institute of Medical Genetics; Institute of Molecular Life Sciences; Adaptive Brain Circuits in Development and Learning (AdaBD)

Source: Rusterholz, Tamara D S; Hofmann, Claudia; Bachmann-Gagescu, Ruxandra (2022). Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome. Frontiers in Genetics, 13:939527.

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Academic Journal

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Authors : Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta

Subjects: Institute of Medical Genetics; 570 Life sciences; biology

Source: Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Ivanovski, Ivan; et al (2021). Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to

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Academic Journal

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Authors : Epting, Daniel; Senaratne, Lokuliyange D S; Ott, Elisabeth

Subjects: Institute of Anatomy; 570 Life sciences; biology

Source: Epting, Daniel; Senaratne, Lokuliyange D S; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; et al; Lienkamp, Soeren Sten (2020). Loss of CBY1 results in a ciliopathy characterized by features

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Academic Journal

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Authors : Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke

Subjects: Institute of Medical Genetics; Institute of Molecular Life Sciences; 570 Life sciences

Source: Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke; Grout, Megan E; Aldinger, Kimberly A; Shaheen, Ranad; Dempsey, Jennifer C; Maddirevula, Sateesh; Cheng, Yong-Han H; Phelps, Ian G;

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Academic Journal

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Authors : Bergmann, C; Fliegauf, M; Brüchle, N O

Subjects: Medical Clinic; 610 Medicine & health

Source: Bergmann, C; Fliegauf, M; Brüchle, N O; et al; Lienkamp, Soeren Sten (2008). Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and

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فلترة النتائج

Characterization of polydactyly chondrocytes and their use in cartilage engineering

NEK1 mutations cause short-rib polydactyly syndrome type majewski

Engineering Inflammation-Resistant Cartilage: Bridging Gene Therapy and Tissue Engineering

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

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