Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features

Sogri Consortium; PP Vinagre; A Parra; M Cazalla; C Silvan; N Gallego; P Arias; I Thiffault; D Marom; S Donogue; K Myers; HA Mayr; S McKee; M Scala; J Tenorio; P Lapunzina

Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features

Sogri Consortium, PP Vinagre, A Parra, M Cazalla, C Silvan, N Gallego, P Arias, I Thiffault, D Marom, S Donogue, K Myers, HA Mayr, S McKee, M Scala, J Tenorio, P Lapunzina

Research output: Contribution to journal › Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	531-531
Number of pages	1
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	32
Publication status	Published - Jan 2024
Externally published	Yes
Event	56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) - Glasgow, United Kingdom Duration: 10 Jun 2023 → 13 Jun 2023

Cite this

Consortium, S., Vinagre, PP., Parra, A., Cazalla, M., Silvan, C., Gallego, N., Arias, P., Thiffault, I., Marom, D., Donogue, S., Myers, K., Mayr, HA., McKee, S., Scala, M., Tenorio, J., & Lapunzina, P. (2024). Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features. EUROPEAN JOURNAL OF HUMAN GENETICS , 32, 531-531.

Consortium, Sogri ; Vinagre, PP ; Parra, A et al. / Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2024 ; Vol. 32. pp. 531-531.

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title = "Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features",

author = "Sogri Consortium and PP Vinagre and A Parra and M Cazalla and C Silvan and N Gallego and P Arias and I Thiffault and D Marom and S Donogue and K Myers and HA Mayr and S McKee and M Scala and J Tenorio and P Lapunzina",

year = "2024",

month = jan,

language = "English",

volume = "32",

pages = "531--531",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

note = "56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) ; Conference date: 10-06-2023 Through 13-06-2023",

}

Consortium, S, Vinagre, PP, Parra, A, Cazalla, M, Silvan, C, Gallego, N, Arias, P, Thiffault, I, Marom, D, Donogue, S, Myers, K, Mayr, HA, McKee, S, Scala, M, Tenorio, J & Lapunzina, P 2024, 'Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 32, pp. 531-531.

Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features. / Consortium, Sogri; Vinagre, PP; Parra, A et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 32, 01.2024, p. 531-531.

Research output: Contribution to journal › Abstract (Journal) › peer-review

TY - JOUR

T1 - Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features

AU - Consortium, Sogri

AU - Vinagre, PP

AU - Parra, A

AU - Cazalla, M

AU - Silvan, C

AU - Gallego, N

AU - Arias, P

AU - Thiffault, I

AU - Marom, D

AU - Donogue, S

AU - Myers, K

AU - Mayr, HA

AU - McKee, S

AU - Scala, M

AU - Tenorio, J

AU - Lapunzina, P

PY - 2024/1

Y1 - 2024/1

M3 - Abstract (Journal)

SN - 1018-4813

VL - 32

SP - 531

EP - 531

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

T2 - 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG)

Y2 - 10 June 2023 through 13 June 2023

ER -

Consortium S, Vinagre PP, Parra A, Cazalla M, Silvan C, Gallego N et al. Description of eight novel cases with variants in DNAH14 gene and review of the clinical and molecular features. EUROPEAN JOURNAL OF HUMAN GENETICS . 2024 Jan;32:531-531.