Alhaddad, B.
8  Ergebnisse:
Personensuche X
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1

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
 
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2

Mild orotic aciduria in UMPS heterozygotes: A metabolic fin..:

Wortmann, S.B ; Chen, M.A ; Colombo, R...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10545-017-0015-9.  , 2017
 
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3

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
 
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4

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
 
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5

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
 
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6

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
 
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7

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
 
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