Molecular and clinical spectra of FBXL4 deficiency.

Ayman W El-Hattab; Hongzheng Dai; Mohammed Almannai; Julia Wang; Eissa A Faqeih; Ali Al Asmari; Mohammed A M Saleh; Mohammed A O Elamin; Majid Alfadhel; Fowzan S Alkuraya; Mais Hashem; Mazhor S Aldosary; Rawan Almass; Faten B Almutairi; Maysoon Alsagob; Mohammed Al-Owain; Shirin Al-Sharfa; Zuhair N Al-Hassnan; Zuhair Rahbeeni; Mohammed A Al-Muhaizea; Nawal Makhseed; Gretchen K Foskett; David A Stevenson; Natalia Gomez-Ospina; Chung Lee; Richard G Boles; Samantha A Schrier Vergano; Saskia Wortmann; Wolfgang Sperl; Thomas Opladen; Georg F Hoffmann; Maja Hempel; Holger Prokisch; Bader Alhaddad; Johannes A. Mayr; Wenyaw Chan; Namik Kaya; Lee-Jun C Wong

doi:10.1002/humu.23341

Molecular and clinical spectra of FBXL4 deficiency.

Ayman W El-Hattab
, Hongzheng Dai
, Mohammed Almannai
, Julia Wang
, Eissa A Faqeih
, Ali Al Asmari
, Mohammed A M Saleh
, Mohammed A O Elamin
, Majid Alfadhel
, Fowzan S Alkuraya
, Mais Hashem
, Mazhor S Aldosary
, Rawan Almass
, Faten B Almutairi
, Maysoon Alsagob
, Mohammed Al-Owain
, Shirin Al-Sharfa
, Zuhair N Al-Hassnan
, Zuhair Rahbeeni
, Mohammed A Al-Muhaizea

Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia Wortmann (Co-Autor/-in), Wolfgang Sperl (Co-Autor/-in), Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr (Co-Autor/-in), Wenyaw Chan, Namik Kaya, Lee-Jun C Wong

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

45 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	1649-1659
Fachzeitschrift	HUMAN MUTATION
Jahrgang	38
Ausgabenummer	12
DOIs	https://doi.org/10.1002/humu.23341
Publikationsstatus	Veröffentlicht - 2017

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10.1002/humu.23341

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El-Hattab, A. W., Dai, H., Almannai, M., Wang, J., Faqeih, E. A., Al Asmari, A., Saleh, M. A. M., Elamin, M. A. O., Alfadhel, M., Alkuraya, F. S., Hashem, M., Aldosary, M. S., Almass, R., Almutairi, F. B., Alsagob, M., Al-Owain, M., Al-Sharfa, S., Al-Hassnan, Z. N., Rahbeeni, Z., ... Wong, L.-J. C. (2017). Molecular and clinical spectra of FBXL4 deficiency. HUMAN MUTATION , 38(12), 1649-1659. https://doi.org/10.1002/humu.23341

El-Hattab, Ayman W ; Dai, Hongzheng ; Almannai, Mohammed et al. / Molecular and clinical spectra of FBXL4 deficiency. in: HUMAN MUTATION 2017 ; Jahrgang 38, Nr. 12. S. 1649-1659.

@article{d5fc5efc61914619a686fdf41434e35b,

title = "Molecular and clinical spectra of FBXL4 deficiency.",

keywords = "MITOCHONDRIAL-DNA DEPLETION, DELETED REGION, MUTATIONS, MAINTENANCE, INTEGRATION, VARIANTS, GENOMICS, DEFECTS, SCREEN, CAMTA1",

author = "El-Hattab, \{Ayman W\} and Hongzheng Dai and Mohammed Almannai and Julia Wang and Faqeih, \{Eissa A\} and \{Al Asmari\}, Ali and Saleh, \{Mohammed A M\} and Elamin, \{Mohammed A O\} and Majid Alfadhel and Alkuraya, \{Fowzan S\} and Mais Hashem and Aldosary, \{Mazhor S\} and Rawan Almass and Almutairi, \{Faten B\} and Maysoon Alsagob and Mohammed Al-Owain and Shirin Al-Sharfa and Al-Hassnan, \{Zuhair N\} and Zuhair Rahbeeni and Al-Muhaizea, \{Mohammed A\} and Nawal Makhseed and Foskett, \{Gretchen K\} and Stevenson, \{David A\} and Natalia Gomez-Ospina and Chung Lee and Boles, \{Richard G\} and \{Schrier Vergano\}, \{Samantha A\} and Saskia Wortmann and Wolfgang Sperl and Thomas Opladen and Hoffmann, \{Georg F\} and Maja Hempel and Holger Prokisch and Bader Alhaddad and Mayr, \{Johannes A.\} and Wenyaw Chan and Namik Kaya and Wong, \{Lee-Jun C\}",

note = "Wortmann, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria",

year = "2017",

doi = "10.1002/humu.23341",

language = "English",

volume = "38",

pages = "1649--1659",

journal = "HUMAN MUTATION ",

issn = "1059-7794",

number = "12",

}

El-Hattab, AW, Dai, H, Almannai, M, Wang, J, Faqeih, EA, Al Asmari, A, Saleh, MAM, Elamin, MAO, Alfadhel, M, Alkuraya, FS, Hashem, M, Aldosary, MS, Almass, R, Almutairi, FB, Alsagob, M, Al-Owain, M, Al-Sharfa, S, Al-Hassnan, ZN, Rahbeeni, Z, Al-Muhaizea, MA, Makhseed, N, Foskett, GK, Stevenson, DA, Gomez-Ospina, N, Lee, C, Boles, RG, Schrier Vergano, SA, Wortmann, S , Sperl, W, Opladen, T, Hoffmann, GF, Hempel, M, Prokisch, H, Alhaddad, B, Mayr, JA, Chan, W, Kaya, N & Wong, L-JC 2017, 'Molecular and clinical spectra of FBXL4 deficiency.', HUMAN MUTATION , Jg. 38, Nr. 12, S. 1649-1659. https://doi.org/10.1002/humu.23341

Molecular and clinical spectra of FBXL4 deficiency. / El-Hattab, Ayman W; Dai, Hongzheng; Almannai, Mohammed et al.
in: HUMAN MUTATION , Jahrgang 38, Nr. 12, 2017, S. 1649-1659.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Molecular and clinical spectra of FBXL4 deficiency.

AU - El-Hattab, Ayman W

AU - Dai, Hongzheng

AU - Almannai, Mohammed

AU - Wang, Julia

AU - Faqeih, Eissa A

AU - Al Asmari, Ali

AU - Saleh, Mohammed A M

AU - Elamin, Mohammed A O

AU - Alfadhel, Majid

AU - Alkuraya, Fowzan S

AU - Hashem, Mais

AU - Aldosary, Mazhor S

AU - Almass, Rawan

AU - Almutairi, Faten B

AU - Alsagob, Maysoon

AU - Al-Owain, Mohammed

AU - Al-Sharfa, Shirin

AU - Al-Hassnan, Zuhair N

AU - Rahbeeni, Zuhair

AU - Al-Muhaizea, Mohammed A

AU - Makhseed, Nawal

AU - Foskett, Gretchen K

AU - Stevenson, David A

AU - Gomez-Ospina, Natalia

AU - Lee, Chung

AU - Boles, Richard G

AU - Schrier Vergano, Samantha A

AU - Wortmann, Saskia

AU - Sperl, Wolfgang

AU - Opladen, Thomas

AU - Hoffmann, Georg F

AU - Hempel, Maja

AU - Prokisch, Holger

AU - Alhaddad, Bader

AU - Mayr, Johannes A.

AU - Chan, Wenyaw

AU - Kaya, Namik

AU - Wong, Lee-Jun C

N1 - Wortmann, Sperl, Mayr: Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria

PY - 2017

Y1 - 2017

KW - MITOCHONDRIAL-DNA DEPLETION

KW - DELETED REGION

KW - MUTATIONS

KW - MAINTENANCE

KW - INTEGRATION

KW - VARIANTS

KW - GENOMICS

KW - DEFECTS

KW - SCREEN

KW - CAMTA1

U2 - 10.1002/humu.23341

DO - 10.1002/humu.23341

M3 - Original Article

C2 - 28940506

SN - 1059-7794

VL - 38

SP - 1649

EP - 1659

JO - HUMAN MUTATION

JF - HUMAN MUTATION

IS - 12

ER -

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A et al. Molecular and clinical spectra of FBXL4 deficiency. HUMAN MUTATION . 2017;38(12):1649-1659. doi: 10.1002/humu.23341