T. Ben-Omran
发表
Eric M. Morrow,
Annapurna Poduri,
Fuki M. Hisama,
2013,
Neuron.
T. Ideker,
J. Al-Aama,
Matan Hofree,
2014,
Science.
J. Al-Aama,
K. Campbell,
E. Dikoglu,
2016,
American journal of human genetics.
Vineet Bafna,
Nitin Udpa,
Carrie Sougnez,
2012,
Science Translational Medicine.
J. Vincent,
A. Caglayan,
R. Abou Jamra,
2016,
American journal of human genetics.
F. Alkuraya,
T. Ben-Omran,
M. Alfadhel,
2020,
American journal of medical genetics. Part A.
A. Hoischen,
B. D. de Vries,
L. S. Lucas,
2013,
Orphanet Journal of Rare Diseases.
S. Nelson,
M. Hegde,
A. Ferlini,
2019,
The Journal of pediatrics.
Kiely N. James,
S. Kingsmore,
S. Chowdhury,
2019,
Nature Communications.
F. Alkuraya,
E. Faqeih,
T. Ben-Omran,
2017,
Genetics in Medicine.
A. Schlessinger,
A. Caglayan,
M. Topcu,
2016,
Cell.
P. Curmi,
R. Maroun,
T. Ben-Omran,
2014,
Orphanet Journal of Rare Diseases.
Muthanna Samara,
T. Ben-Omran,
M. Yassin,
2016,
Clinical Medicine Insights. Oncology.
K. Al-Thihli,
T. Ben-Omran,
J. Häberle,
2016,
Therapeutics and clinical risk management.
B. Solomon,
T. Ben-Omran,
M. Al-Mureikhi,
2018,
Molecular genetics & genomic medicine.
G. Mortier,
M. Maghnie,
M. Irving,
2021,
Orphanet Journal of Rare Diseases.
T. Ben-Omran,
A. Teebi,
2010
.
Z. Nawaz,
T. Shintani,
M. Noda,
2015,
Cell reports.
R. Lachmann,
T. Ben-Omran,
E. Murphy,
2012,
Journal of Inherited Metabolic Disease.
A. Bener,
T. Ben-Omran,
A. Schulze,
2007,
Journal of Inherited Metabolic Disease.
T. Ben-Omran,
I. Janahi,
R. Alsulaiman,
2015,
Annals of thoracic medicine.
P. Bauer,
A. Rolfs,
T. Ben-Omran,
2019,
Orphanet Journal of Rare Diseases.
C. Walsh,
F. Alkuraya,
T. Yu,
2014,
Neuron.
Terrie E. Kitchner,
Deborah M. Costakos,
C. McCarty,
2016,
Molecular vision.
G. Kolovou,
R. Santos,
G. Ariceta,
2019,
Advances in Therapy.
W. Chung,
T. Ben-Omran,
K. Retterer,
2015,
Cold Spring Harbor molecular case studies.
G. Mortier,
M. Maghnie,
M. Irving,
2022,
Orphanet Journal of Rare Diseases.
G. Mortier,
M. Maghnie,
C. Garel,
2022,
Orphanet Journal of Rare Diseases.
R. Badii,
T. Ben-Omran,
S. Mole,
2011,
Journal of child neurology.
J. Gleeson,
Jennifer McEvoy-Venneri,
T. Ben-Omran,
2020,
Journal of Medical Genetics.
T. Ben-Omran,
G. Hoffmann,
J. Häberle,
2011,
Molecular genetics and metabolism.
D. Chitayat,
T. Ben-Omran,
Jillian Murphy,
2006,
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
I. Harting,
C. Fischer,
U. Moog,
2014,
Journal of child neurology.
J. Felie,
M. Al-Saffar,
T. Ben-Omran,
2011,
American journal of medical genetics. Part A.
D. Häussinger,
F. Chaudhry,
B. Görg,
2015,
Journal of Inherited Metabolic Disease.
A. Hoischen,
L. S. Lucas,
J. Allanson,
2016
.
F. Baas,
J. Gleeson,
T. Ben-Omran,
2017,
American journal of human genetics.
N. Chalhoub,
T. Ben-Omran,
Alice Abdel Aleem,
2018,
Clinical genetics.
F. Alkuraya,
A. Al-Marri,
B. Solomon,
2019,
American journal of medical genetics. Part A.
Gheyath K Nasrallah,
H. Blom,
H. Zayed,
2018,
Human mutation.
T. Ben-Omran,
Tawfeg Ben-Omran,
Rehab Ali,
2016,
BMC Medical Genetics.
H. Scheffer,
T. Ben-Omran,
E. Kamsteeg,
2009,
Neuropediatrics.
K. Cerosaletti,
T. Ben-Omran,
M. Nezarati,
2005,
American journal of medical genetics. Part A.
F. Alkuraya,
E. Faqeih,
A. El-Hattab,
2018,
Pediatric neurology.
Y. Crow,
T. Ben-Omran,
J. Livingston,
2010,
American journal of medical genetics. Part A.
S. Blaser,
T. Ben-Omran,
A. Feigenbaum,
2007,
American journal of medical genetics. Part A.
I. T. de Almeida,
H. Blom,
M. Hochuli,
2016,
Journal of Inherited Metabolic Disease.
Gheyath K Nasrallah,
H. Blom,
T. Ben-Omran,
2019,
Journal of inherited metabolic disease.
N. Blau,
E. Faqeih,
A. El-Hattab,
2019,
Pediatric neurology.
W. Chung,
S. Prabhu,
Yaping Yang,
2013,
JAMA neurology.
Z. Nawaz,
V. Tropepe,
J. Nadaf,
2015,
Journal of Medical Genetics.
F. Alkuraya,
Z. Nawaz,
Tarunashree Yavarna,
2015,
Human Genetics.
Robert A Harris,
Stephan J Sanders,
Matthew W State,
2012,
Science.
F. Alkuraya,
T. Ben-Omran,
M. Alfadhel,
2018,
Genetics in Medicine.
R. Pfundt,
V. Shashi,
T. Kleefstra,
2021,
American journal of medical genetics. Part A.
A. V. Vulto-van Silfhout,
A. Hoischen,
D. Horn,
2013,
Human mutation.
S. Kishore,
H. Zayed,
D. Trujillano,
2019,
Gene.
Z. Nawaz,
J. Majewski,
J. Schwartzentruber,
2014,
Clinical genetics.
F. Alkuraya,
S. Arold,
H. Houlden,
2017,
Human Genetics.
M. State,
F. Alkuraya,
S. Arold,
2017,
Molecular Psychiatry.
S. Gabriel,
E. Zackai,
E. Nickerson,
2013,
American journal of human genetics.
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress
A. Hattersley,
K. Patel,
T. Ben-Omran,
2021,
Diabetes.
Kiely N. James,
Martin W. Breuss,
I. Miller,
2018,
Nature Genetics.
A. Bener,
T. Ben-Omran,
J. Zschocke,
2010,
The Journal of pediatrics.
J. Casanova,
L. Notarangelo,
C. Cunningham-Rundles,
2018,
The Journal of clinical investigation.
T. Ben-Omran,
H. Kamel,
R. Abujarir,
2015,
Journal of Pediatric Neuroradiology.
Georgia Ramantani,
Fowzan S Alkuraya,
William A Gahl,
2018,
American journal of human genetics.
T. Ben-Omran,
Mohammad S. Ehlayel,
K. Mohamed,
2020,
American journal of medical genetics. Part A.
T. Ben-Omran,
Z. Al-Hassnan,
M. Al-Owain,
2018,
American journal of medical genetics. Part A.
S. Murray,
F. Alkuraya,
L. B. Caddle,
2016,
American journal of human genetics.
T. Ben-Omran,
A. Teebi,
2005,
American journal of medical genetics. Part A.
S. Gabriel,
M. Gunel,
A. Cazenave-Gassiot,
2015,
Nature Genetics.
Mohit M. Jain,
R. Maroofian,
J. Gleeson,
2020,
Genetics in Medicine.
A. El-Hattab,
T. Ben-Omran,
Fatima Almusafri,
2017,
Blood cells, molecules & diseases.
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
F. Alkuraya,
E. Faqeih,
T. Ben-Omran,
2018,
Clinical genetics.
R. Redon,
S. Küry,
J. Thevenon,
2019,
Genetics in Medicine.
T. Ben-Omran,
A. A. Wahab,
2012
.
Kevin C. H. Ha,
J. Majewski,
L. Jerome-Majewska,
2010,
American journal of human genetics.
J. Malek,
N. Chalhoub,
T. Ben-Omran,
2014,
American journal of medical genetics. Part A.
S. Gabriel,
M. Gunel,
M. Kabra,
2014,
American journal of human genetics.
S. Ellard,
S. Flanagan,
K. Hussain,
2009,
European journal of endocrinology.
F. Alkuraya,
S. Anazi,
T. Ben-Omran,
2017,
Genetics in Medicine.
R. Finkel,
T. Crawford,
W. Hwu,
2019,
Neuromuscular Disorders.
I. Rivera,
H. Blom,
J. B. Vicente,
2015,
Human molecular genetics.
T. Ben-Omran,
M. Abu-Hasan,
A. Alnaimi,
2022,
Pediatric pulmonology.
T. Ben-Omran,
H. El Bashir,
Lubna H. Dekair,
2015,
JIMD reports.
C. Fischer,
T. Ben-Omran,
J. Zschocke,
2009,
Human mutation.
Gheyath K Nasrallah,
H. Blom,
Muthanna Samara,
2019,
Journal of inherited metabolic disease.
E. Sistermans,
M. McDonald,
T. Ben-Omran,
2013,
American journal of human genetics.
Kiely N. James,
Martin W. Breuss,
A. Caglayan,
2018,
Nature Genetics.
F. Alkuraya,
Z. Nawaz,
Tarunashree Yavarna,
2015,
Human Genetics.
T. Ben-Omran,
M. Elsaid,
Hossamaldein Ali,
2021,
Gene Therapy.
D. Cole,
T. Ben-Omran,
A. Soliman,
2011,
European Journal of Pediatrics.
R. Rodenburg,
H. Venselaar,
S. Wortmann,
2014,
European Journal of Human Genetics.
V. Mootha,
T. Ben-Omran,
K. Kamer,
2019,
JIMD reports.
T. Ben-Omran,
M. Alfadhel,
B. Tabarki,
2023,
European Journal of Pediatrics.
S. Blaser,
T. Ben-Omran,
A. Feigenbaum,
2006,
Journal of Inherited Metabolic Disease.
T. Ben-Omran,
2010
.
T. Ben-Omran,
Amro Abdel-Azeem,
A. Mustafa,
2022
.
F. Alkuraya,
T. Ben-Omran,
R. Shaheen,
2015,
American journal of medical genetics. Part A.
T. Ben-Omran,
M. Kambouris,
H. El-Shanti,
2014
.
J. Malek,
K. Suhre,
N. Chalhoub,
2017,
Annals of neurology.
T. Ben-Omran,
J. Okun,
G. Hoffmann,
2017,
World Journal of Pediatrics.
Muthanna Samara,
Tarunashree Yavarna,
T. Ben-Omran,
2019,
Molecular genetics & genomic medicine.
P. Striano,
M. Larsen,
Philippe M. Campeau,
2021,
Clinical genetics.
T. Ben-Omran,
Sahar Agouba,
Karen El-Akouri,
2021,
American journal of medical genetics. Part A.
Kiely N. James,
S. Kingsmore,
S. Chowdhury,
2019,
Nature Communications.
T. Ben-Omran,
A. Teebi,
Venkatraman Bhat,
2010,
American journal of medical genetics. Part A.
J. Fish,
O. Klein,
A. Slavotinek,
2015,
American journal of medical genetics. Part A.
T. Ben-Omran,
A. Teebi,
Mohammad S. Ehlayel,
2009,
Journal of Neurology.
C. Walsh,
Ryan N. Doan,
J. Partlow,
2017,
European journal of medical genetics.
D. Nickerson,
M. Bamshad,
K. Buckingham,
2020,
bioRxiv.
A. Hoischen,
L. S. Lucas,
E. Bongers,
2013
.
J. Mullikin,
A. Bassuk,
W. Gahl,
2016,
Annals of clinical and translational neurology.
R. Finkel,
T. Crawford,
W. Hwu,
2023,
Muscle & nerve.
M. Maghnie,
M. Sessa,
M. Irving,
2023,
Orphanet Journal of Rare Diseases.
I. Scheffer,
Siddharth Srivastava,
B. Bourgeois,
2023,
JAMA neurology.
R. O'Gorman,
F. Chaudhry,
T. Ben-Omran,
2012,
Orphanet Journal of Rare Diseases.
H. Blom,
T. Ben-Omran,
B. Thöny,
2017,
Journal of Inherited Metabolic Disease.
J. Vincent,
R. Abou Jamra,
J. Gleeson,
2016,
American journal of human genetics.
Stephan J Sanders,
Robert A. Harris,
S. Gabriel,
2012,
Science.
R. Badii,
Najeeb Syed,
T. Ben-Omran,
2024,
Genome medicine.
Maeson S. Latsko,
P. Jayakar,
K. Štěrbová,
2023,
Research square.
C. Fischer,
T. Ben-Omran,
J. Zschocke,
2009,
Human mutation.