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1 Ergebnisse
1
Macrocephaly and Digital Anomalies Expand the Phenotypic Sp..:
Susgun, Seda
;
Ben-Mahmoud, Afif
;
Rüschendorf, Franz
...
Human Mutation. 2024 (2024) - p. 1-13 , 2024
Link:
https://doi.org/10.1155/2024/5518289
RT Journal T1
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
UL https://suche.suub.uni-bremen.de/peid=cr-10.1155_2024_5518289&Exemplar=1&LAN=DE A1 Susgun, Seda A1 Ben-Mahmoud, Afif A1 Rüschendorf, Franz A1 Ku, Bonsu A1 Hussain, Syeda Iqra A1 Schulz, Solveig A1 Puk, Oliver A1 Biskup, Saskia A1 Labonne, Jonathan D. J. A1 Don, Dilan Wellalage A1 Gupta, Vijay A1 Choi, Tae-Ik A1 Khan, Saadullah A1 Wasif, Naveed A1 Lacassie, Yves A1 Layman, Lawrence C. A1 Ugur Iseri, Sibel Aylin A1 Kim, Cheol-Hee A1 Kim, Hyung-Goo A1 Patrinos, George P. PB Hindawi Limited YR 2024 SN 1098-1004 SN 1059-7794 JF Human Mutation VO 2024 SP 1 OP 13 LK http://dx.doi.org/https://doi.org/10.1155/2024/5518289 DO https://doi.org/10.1155/2024/5518289 SF ELIB - SuUB Bremen
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