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Oliver Bartsch

Showing results (71-80 of 118) with videos related to

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Human Mutation|August 10, 2005
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, et al.
American Journal of Medical Genetics. Part A|November 26, 2009
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingersDagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delayJörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter, Klaus Sandig, Georg K Hinkel, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally representedEve Oiglane-Shlik, Tiina Talvik, Riina Zordania, et al.
Head & Neck|June 22, 2011
Head and neck paragangliomas: Report of 175 patients (1989-2010)Konstantinos Papaspyrou, Torsten Mewes, Heidi Rossmann, et al.
Behavioral and Brain Functions : BBF|February 20, 2013
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]Julia C Schröder, Anne K Läßig, Danuta Galetzka, et al.
Vaccines|November 11, 2022
Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective ObservationHenning Zelba, Alex McQueeney, Armin Rabsteyn, et al.
European Journal of Medical Genetics|September 7, 2011
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12Oliver Bartsch, Detlev Schindler, Vera Beyer, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|November 4, 2022
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, et al.
Pageof 12

Showing results (71-80 of 118) with videos related to

Sort By:
Pageof 12
Human Mutation|August 10, 2005
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, et al.
American Journal of Medical Genetics. Part A|November 26, 2009
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingersDagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delayJörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter, Klaus Sandig, Georg K Hinkel, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally representedEve Oiglane-Shlik, Tiina Talvik, Riina Zordania, et al.
Head & Neck|June 22, 2011
Head and neck paragangliomas: Report of 175 patients (1989-2010)Konstantinos Papaspyrou, Torsten Mewes, Heidi Rossmann, et al.
Behavioral and Brain Functions : BBF|February 20, 2013
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]Julia C Schröder, Anne K Läßig, Danuta Galetzka, et al.
Vaccines|November 11, 2022
Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective ObservationHenning Zelba, Alex McQueeney, Armin Rabsteyn, et al.
European Journal of Medical Genetics|September 7, 2011
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12Oliver Bartsch, Detlev Schindler, Vera Beyer, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|November 4, 2022
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, et al.
Pageof 12