Results 21 to 30 of about 753,352 (304)

Glossary of medical and molecular genetics [PDF]

, 2005
Educational Items on Glossary of medical and molecular ...
Dallaire, L
core   +1 more source

General resources in Genetics and/or Oncology [PDF]

, 2016
Review on General resources in Genetics and/or ...
Mossafa, Hossain, Huret, Jean-Loup, Dessen, Philippe, De Braekeleer, Etienne, Hautaviita, Katriina   +4 more
core   +3 more sources

Finger stick blood collection for gene expression profiling and storage of tempus blood RNA tubes [version 2; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai, Esperanza Anguiano, Phuong Nguyen, Damien Chaussabel   +3 more
doaj   +1 more source

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

F1000Research, 2017
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen   +18 more
doaj   +1 more source

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +1 more source

Management of biobanking for medical genetics research

Кардиоваскулярная терапия и профилактика, 2022
Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P.
V. Yu. Tabakov
doaj   +1 more source

Genetics in medical practice [PDF]

Genetics in Medicine, 2002
Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire   +2 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

ASHG Position Statement : The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results [PDF]

, 2019
© 2019 American Society of Human Genetics. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 6 month embargo from ...
Rehm, Heidi L., Nelson, Tanya N, Brothers, Kyle B., Fitzgerald-Butt, Sara, Jarvik, Gail P., Wagner, Jennifer K, Ormond, Kelly E., Vassy, Jason L, Garrison, Nanibaa' A, Jamal, Leila, Jarvik, Gail P, Levy, Howard P, McCormick, Jennifer B, Richer, Julie, Nelson, Tanya N., Garrison, Nanibaa’ A., McCormick, Jennifer B., Rehm, Heidi L, Vassy, Jason L., Ormond, Kelly E, Wagner, Jennifer K., Souzeau, Emmanuelle, Bombard, Yvonne, Brothers, Kyle B, James, Cynthia A, Levy, Howard P., James, Cynthia A.   +26 more
core   +1 more source

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source