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Journal Article
Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393
(2017).
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Am. J. Med. Genet. A, 173 (4).
S. 1102 - 1109.
HOBOKEN:
WILEY.
ISSN 1552-4833
Moosa, Shahida ORCID: 0000-0002-4463-3067, Loeys, Bart, Altmueller, Janine, Mortier, Geert, Nuernberg, Peter, Li, Yun, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393
(2017).
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin. Genet., 92 (3).
S. 342 - 344.
HOBOKEN:
WILEY.
ISSN 1399-0004
Moosa, Shahida ORCID: 0000-0002-4463-3067, Altmueller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nuernberg, Peter, Yigit, Goekhan, Vogel, Ida ORCID: 0000-0002-1125-0393 and Wollnik, Bernd
(2017).
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol. Genet. Genom. Med., 5 (5).
S. 580 - 585.
HOBOKEN:
WILEY.
ISSN 2324-9269