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Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Neurology
|
June 19, 2009
Clinical spectrum of ataxia-telangiectasia in adulthood
M M M Verhagen, W F Abdo, M A A P Willemsen, et al.
Lancet (London, England)
|
February 7, 2014
Salpingotomy versus salpingectomy in women with tubal pregnancy (ESEP study): an open-label, multicentre, randomised controlled trial
Femke Mol, Norah M van Mello, Annika Strandell, et al.
American Journal of Human Genetics
|
April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Journal of Neurology
|
February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study
I A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
Lancet (London, England)
|
July 17, 2017
Procalcitonin-guided decision making for duration of antibiotic therapy in neonates with suspected early-onset sepsis: a multicentre, randomised controlled trial (NeoPIns)
Martin Stocker, Wendy van Herk, Salhab El Helou, et al.
The Lancet Regional Health. Europe
|
December 24, 2024
Physiological versus time based cord clamping in very preterm infants (ABC3): a parallel-group, multicentre, randomised, controlled superiority trial
Ronny Knol, Emma Brouwer, Thomas van den Akker, et al.
American Journal of Human Genetics
|
January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Saskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
Trials
|
October 11, 2023
Doxapram versus placebo in preterm newborns: a study protocol for an international double blinded multicentre randomized controlled trial (DOXA-trial)
Jarinda A Poppe, Robert B Flint, Anne Smits, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 5, 2019
A clinical diagnostic algorithm for early onset cerebellar ataxia
R Brandsma, C C Verschuuren-Bemelmans, D Amrom, et al.
Page
of 34
Search research articles
Search
Showing results (321-330 of 335) with videos related to
Sort By:
Page
of 34
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Neurology
|
June 19, 2009
Clinical spectrum of ataxia-telangiectasia in adulthood
M M M Verhagen, W F Abdo, M A A P Willemsen, et al.
Lancet (London, England)
|
February 7, 2014
Salpingotomy versus salpingectomy in women with tubal pregnancy (ESEP study): an open-label, multicentre, randomised controlled trial
Femke Mol, Norah M van Mello, Annika Strandell, et al.
American Journal of Human Genetics
|
April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Journal of Neurology
|
February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study
I A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
Lancet (London, England)
|
July 17, 2017
Procalcitonin-guided decision making for duration of antibiotic therapy in neonates with suspected early-onset sepsis: a multicentre, randomised controlled trial (NeoPIns)
Martin Stocker, Wendy van Herk, Salhab El Helou, et al.
The Lancet Regional Health. Europe
|
December 24, 2024
Physiological versus time based cord clamping in very preterm infants (ABC3): a parallel-group, multicentre, randomised, controlled superiority trial
Ronny Knol, Emma Brouwer, Thomas van den Akker, et al.
American Journal of Human Genetics
|
January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Saskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
Trials
|
October 11, 2023
Doxapram versus placebo in preterm newborns: a study protocol for an international double blinded multicentre randomized controlled trial (DOXA-trial)
Jarinda A Poppe, Robert B Flint, Anne Smits, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 5, 2019
A clinical diagnostic algorithm for early onset cerebellar ataxia
R Brandsma, C C Verschuuren-Bemelmans, D Amrom, et al.
Page
of 34