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Bwee-Tien Poll-The

Showing results (11-20 of 96) with videos related to

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Orphanet Journal of Rare Diseases|June 16, 2018
What's new in pontocerebellar hypoplasia? An update on genes and subtypesTessa van Dijk, Frank Baas, Peter G Barth, et al.
Neuropediatrics|October 28, 2020
Postnatal Brain Growth Patterns in Pontocerebellar HypoplasiaTessa van Dijk, Peter Barth, Frank Baas, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Phytanic and pristanic acid are naturally occuring ligandsAnna W M Zomer, Paul T van der Saag, Bwee Tien Poll-The
American Journal of Medical Genetics. Part A|November 19, 2016
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia'sTessa van Dijk, Peter Barth, Liesbeth Reneman, et al.
Orphanet Journal of Rare Diseases|September 3, 2014
High prevalence of primary adrenal insufficiency in Zellweger spectrum disordersKevin Berendse, Marc Engelen, Gabor E Linthorst, et al.
Orphanet Journal of Rare Diseases|November 1, 2013
The neurology of rhizomelic chondrodysplasia punctataAnnemieke M Bams-Mengerink, Johannes Htm Koelman, Hans Waterham, et al.
The Biochemical Journal|January 22, 2003
L-serine in disease and developmentTom J de Koning, Keith Snell, Marinus Duran, et al.
Journal of Inherited Metabolic Disease|February 9, 2013
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementationEveline E O Hagebeuk, Marinus Duran, Nico G G M Abeling, et al.
Journal of Inherited Metabolic Disease|December 10, 2014
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective studyBjörn M van Geel, Bwee Tien Poll-The, Aad Verrips, et al.
Journal of Inherited Metabolic Disease|February 22, 2018
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxiaTessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, et al.
Pageof 10

Showing results (11-20 of 96) with videos related to

Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|June 16, 2018
What's new in pontocerebellar hypoplasia? An update on genes and subtypesTessa van Dijk, Frank Baas, Peter G Barth, et al.
Neuropediatrics|October 28, 2020
Postnatal Brain Growth Patterns in Pontocerebellar HypoplasiaTessa van Dijk, Peter Barth, Frank Baas, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Phytanic and pristanic acid are naturally occuring ligandsAnna W M Zomer, Paul T van der Saag, Bwee Tien Poll-The
American Journal of Medical Genetics. Part A|November 19, 2016
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia'sTessa van Dijk, Peter Barth, Liesbeth Reneman, et al.
Orphanet Journal of Rare Diseases|September 3, 2014
High prevalence of primary adrenal insufficiency in Zellweger spectrum disordersKevin Berendse, Marc Engelen, Gabor E Linthorst, et al.
Orphanet Journal of Rare Diseases|November 1, 2013
The neurology of rhizomelic chondrodysplasia punctataAnnemieke M Bams-Mengerink, Johannes Htm Koelman, Hans Waterham, et al.
The Biochemical Journal|January 22, 2003
L-serine in disease and developmentTom J de Koning, Keith Snell, Marinus Duran, et al.
Journal of Inherited Metabolic Disease|February 9, 2013
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementationEveline E O Hagebeuk, Marinus Duran, Nico G G M Abeling, et al.
Journal of Inherited Metabolic Disease|December 10, 2014
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective studyBjörn M van Geel, Bwee Tien Poll-The, Aad Verrips, et al.
Journal of Inherited Metabolic Disease|February 22, 2018
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxiaTessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, et al.
Pageof 10