Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Haack, T.B.
33  Ergebnisse:
deutsch X
Personensuche X
?
1

"Next generation sequencing": Neuer Zugang zur molekularen ..:

Hempel, M. ; Haack, T.B. ; Eck, S..
Monatsschrift Kinderheilkunde.  159 (2011)  9 - p. 827-833 , 2011
Link: https://doi.org/10.1007/..
 
?
2

Exome sequencing in children undiagnosed developmental dela..:

Mahler, E.A ; Johannsen, J ; Tsiakas, K...
info:eu-repo/semantics/altIdentifier/doi/10.3238/arztebl.2019.0197.  , 2019
Link: https://push-zb.helmholt..
 
?
3

Clinical, biochemical, and genetic features associated with..:

Bruni, F ; Meo, I.D ; Bellacchio, E...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23398.  , 2018
Link: https://push-zb.helmholt..
 
?
4

BCL11B mutations in patients affected by a neurodevelopment..:

Lessel, D ; Gehbauer, C ; Bramswig, N.C...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awy173.  , 2018
Link: https://push-zb.helmholt..
 
?
5

A new missense mutation in UMOD gene leads to severely redu..:

Satanovskij, R ; Bader, A ; Block, M...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.clinbiochem.2016.10.003.  , 2017
Link: https://push-zb.helmholt..
 
?
6

Combined respiratory chain deficiency and UQCC2 mutations i..:

Feichtinger, R.G ; Brunner-Krainz, M ; Alhaddad, B...
info:eu-repo/semantics/altIdentifier/doi/10.1155/2017/7202589.  , 2017
Link: https://push-zb.helmholt..
 
?
7

Bainbridge-Ropers syndrome caused by loss-of-function varia..:

Kuechler, A ; Czeschik, J.C ; Graf, E...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.165.  , 2017
Link: https://push-zb.helmholt..
 
?
8

Exome sequencing revealed a splice site variant in the IQCE..:

Umair, M ; Shah, K ; Alhaddad, B...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2017.83.  , 2017
Link: https://push-zb.helmholt..
 
?
9

Coexisting variants in OSTM1 and MANEAL cause a complex neu..:

Herebian, D ; Alhaddad, B ; Seibt, A...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2017.96.  , 2017
Link: https://push-zb.helmholt..
 
?
10

Riboflavin-responsive and -non-responsive mutations in FAD ..:

Olsen, R.K ; Konarikova, E ; Giancaspero, T.A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2016.04.006.  , 2016
Link: https://push-zb.helmholt..
 
?
11

Biallelic mutations in TMEM126B cause severe complex I defi..:

Alston, C.L ; Compton, A.G ; Formosa, L.E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2016.05.021.  , 2016
Link: https://push-zb.helmholt..
 
?
12

Haploinsufficiency of KMT2B, encoding the lysine-specific h..:

Zech, M ; Boesch, S ; Maier, E.M...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2016.10.010.  , 2016
Link: https://push-zb.helmholt..
 
?
13

Biallelic truncating mutations in TANGO2 cause infancy-onse..:

Kremer, L.S ; Distelmaier, F ; Alhaddad, B...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2015.12.009.  , 2016
Link: https://push-zb.helmholt..
 
?
14

Atypical clinical presentations of TAZ mutations: An underd..:

Thiels, C ; Fleger, M ; Huemer, M.-T...
info:eu-repo/semantics/altIdentifier/doi/10.1007/8904_2015_525.  , 2016
Link: https://push-zb.helmholt..
 
?
15

High incidence and variable clinical outcome of cardiac hyp..:

Collet, M ; Assouline, Z ; Bonnet, D...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.264.  , 2015
Link: https://push-zb.helmholt..
 
1-15