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1

Long-term effects of medical management on growth and weigh..:

Posset, R. (Roland) ; Garbade, S.F. (Sven) ; Gleich, F. (Florian)...
http://repub.eur.nl/pub/129092. , 2020

Link: http://repub.eur.nl/pub/..

2

Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8. , 2020

Link: https://vbn.aau.dk/da/pu..

3

Phenotype, treatment practice and outcome in the cobalamin-..:

Huemer, Martina ; Diodato, Daria ; Martinelli, Diego...
boreal:221397. , 2019

Link: http://hdl.handle.net/20..

4

Biochemical signatures mimicking multiple carboxylase defic..:

Larson, Austin A ; Balasubramaniam, Shanti ; Christodoulou, John...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201920/. , 2019

Link: http://www.ncbi.nlm.nih...

5

Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:

Batzir, Nurit Assia ; Bhagwat, Pranjali K ; Larson, Austin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720429/. , 2019

Link: http://www.ncbi.nlm.nih...

6

Phenotype, treatment practice and outcome in the cobalamin-..:

Huemer, Martina ; Diodato, Daria ; Martinelli, Diego...
boreal:221397. , 2019

Link: http://hdl.handle.net/20..

7

Neonatal Onset Interstitial Lung Disease as a Primary Prese..:

Bush, Douglas ; Sremba, Leighann ; Lomax, Kate...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323025/. , 2018

Link: http://www.ncbi.nlm.nih...

8

Guidelines for diagnosis and management of the cobalamin-re..:

Huemer, Martina ; Diodato, Daria ; Schwahn, Bernd...
https://link.springer.com/article/10.1007%2Fs10545-016-9991-4. , 2017

Link: http://hdl.handle.net/10..

9

Guidelines for diagnosis and management of the cobalamin-re..:

Huemer, Martina ; Diodato, Daria ; Schwahn, Bernd...
https://link.springer.com/article/10.1007%2Fs10545-016-9991-4. , 2017

Link: http://hdl.handle.net/10..

10

A de novo 2.78-Mb duplication on chromosome 21q22.11 implic..:

Weisfeld-Adams, James D ; Tkachuk, Amanda K ; Maclean, Kenneth N..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685322/. , 2017

Link: http://www.ncbi.nlm.nih...

11

A de novo 2.78-Mb duplication on chromosome 21q22.11 implic..:

Weisfeld-Adams, James D ; Tkachuk, Amanda K ; Maclean, Kenneth N..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102301/. , 2016

Link: http://www.ncbi.nlm.nih...

12

De novo and inherited SCN8A epilepsy mutations detected by ..:

Butler, Kameryn M ; da Silva, Cristina ; Shafir, Yuval...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321682/. , 2016

Link: http://www.ncbi.nlm.nih...

13

Impact of tumor location and pathological discordance on su..:

Eisenstat, David D ; Pollack, Ian F ; Demers, Alain...
qt5f6565bb. , 2015

Link: https://escholarship.org..

14

Impact of tumor location and pathological discordance on su..:

Eisenstat, David D ; Pollack, Ian F ; Demers, Alain...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

15

The phenotype of Floating-Harbor syndrome: Clinical charact..:

Nikkel, S.M. (Sarah) ; Dauber, A. (Andrew) ; Munnik, S.A. (Sonja) de...
http://repub.eur.nl/pub/60619. , 2013

Link: http://repub.eur.nl/pub/..

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