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Maja Hempel

Showing results (1-10 of 125) with videos related to

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Deutsches Arzteblatt International|August 22, 2019
In ReplyMaja Hempel
Zeitschrift Fur Geburtshilfe Und Neonatologie|September 17, 2020
Hirschsprung Disease - Clinical Relevance of RET MutationsJulia Katharina Wenskus, Deirdre Vincent, Maja Hempel, et al.
Pediatrics and Neonatology|December 20, 2016
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twinsJessika Johannsen, Maja Hempel, Thilo Diehl, et al.
Scientific Reports|August 31, 2019
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activationPauline E Schneeberger, Tatjana Bierhals, Axel Neu, et al.
Journal of Pediatric Hematology/Oncology|March 21, 2012
Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!Walter Bonfig, Maja Hempel, Irene Teichert-von Lüttichau, et al.
American Journal of Medical Genetics. Part A|July 12, 2025
Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based StudySebastian Burkart, Markus Ries, Verena Romero, et al.
Neuropediatrics|August 21, 2020
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene MutationLaura Hecher, Jessika Johannsen, Tatjana Bierhals, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|June 14, 2021
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the LiteratureKatja Kloth, Stefan Klohs, Jasmin Bhullar, et al.
Clinical Genetics|December 9, 2020
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5Thomas Eggermann, Florian Kraft, Katja Kloth, et al.
European Journal of Medical Genetics|July 9, 2017
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic featuresKatja Kloth, Jonas Denecke, Maja Hempel, et al.
Pageof 13

Showing results (1-10 of 125) with videos related to

Sort By:
Pageof 13
Deutsches Arzteblatt International|August 22, 2019
In ReplyMaja Hempel
Zeitschrift Fur Geburtshilfe Und Neonatologie|September 17, 2020
Hirschsprung Disease - Clinical Relevance of RET MutationsJulia Katharina Wenskus, Deirdre Vincent, Maja Hempel, et al.
Pediatrics and Neonatology|December 20, 2016
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twinsJessika Johannsen, Maja Hempel, Thilo Diehl, et al.
Scientific Reports|August 31, 2019
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activationPauline E Schneeberger, Tatjana Bierhals, Axel Neu, et al.
Journal of Pediatric Hematology/Oncology|March 21, 2012
Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!Walter Bonfig, Maja Hempel, Irene Teichert-von Lüttichau, et al.
American Journal of Medical Genetics. Part A|July 12, 2025
Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based StudySebastian Burkart, Markus Ries, Verena Romero, et al.
Neuropediatrics|August 21, 2020
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene MutationLaura Hecher, Jessika Johannsen, Tatjana Bierhals, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|June 14, 2021
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the LiteratureKatja Kloth, Stefan Klohs, Jasmin Bhullar, et al.
Clinical Genetics|December 9, 2020
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5Thomas Eggermann, Florian Kraft, Katja Kloth, et al.
European Journal of Medical Genetics|July 9, 2017
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic featuresKatja Kloth, Jonas Denecke, Maja Hempel, et al.
Pageof 13