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Oliver Bartsch

Showing results (51-60 of 118) with videos related to

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American Journal of Medical Genetics. Part A|January 28, 2003
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionOliver Bartsch, Michaela Nemecková, Eduard Kocárek, et al.
European Journal of Medical Genetics|June 24, 2009
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedemaUlrich Zechner, Nicolai Kohlschmidt, Olga Kempf, et al.
Pediatric Nephrology (Berlin, Germany)|March 10, 2004
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infantMartin W Laass, Miriam Spiegel, Anna Jauch, et al.
Human Genomics|October 14, 2023
FGFR1 variants contributed to families with tooth agenesisSiyue Yao, Xi Zhou, Min Gu, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleedingLuitgard M Graul-Neumann, Alexia Bach, Michael Albani, et al.
Clinical Dysmorphology|March 29, 2019
Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplicationZoran S Gucev, Velibor B Tasic, Aleksandar Saveski, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populationsGuanshan Zhu, Oliver Bartsch, Cristina Skrypnyk, et al.
Clinical Dysmorphology|March 10, 2017
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocationMagdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, et al.
Human Genetics|June 20, 2006
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch, Sasan Rasi, Alicia Delicado, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
The neonatal phenotype of Prader-Willi syndromeEve Oiglane-Shlik, Riina Zordania, Heili Varendi, et al.
Pageof 12

Showing results (51-60 of 118) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|January 28, 2003
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionOliver Bartsch, Michaela Nemecková, Eduard Kocárek, et al.
European Journal of Medical Genetics|June 24, 2009
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedemaUlrich Zechner, Nicolai Kohlschmidt, Olga Kempf, et al.
Pediatric Nephrology (Berlin, Germany)|March 10, 2004
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infantMartin W Laass, Miriam Spiegel, Anna Jauch, et al.
Human Genomics|October 14, 2023
FGFR1 variants contributed to families with tooth agenesisSiyue Yao, Xi Zhou, Min Gu, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleedingLuitgard M Graul-Neumann, Alexia Bach, Michael Albani, et al.
Clinical Dysmorphology|March 29, 2019
Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplicationZoran S Gucev, Velibor B Tasic, Aleksandar Saveski, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populationsGuanshan Zhu, Oliver Bartsch, Cristina Skrypnyk, et al.
Clinical Dysmorphology|March 10, 2017
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocationMagdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, et al.
Human Genetics|June 20, 2006
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch, Sasan Rasi, Alicia Delicado, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
The neonatal phenotype of Prader-Willi syndromeEve Oiglane-Shlik, Riina Zordania, Heili Varendi, et al.
Pageof 12