F. Alkuraya

发表

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

E. Faqeih, S. Anazi, M. Salih, 2017, Clinical genetics.

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

F. Gurrieri, G. Ferraccioli, E. Gremese, 2017, Lupus.

C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

L. Pasquier, D. Bonneau, B. Degos, 2010, Clinical genetics.

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

P. Heutink, H. Kayserili, Z. Bochdanovits, 2015, BMC Medical Genetics.

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D

M. Zaki, R. Shaheen, M. Al-Owain, 2014, Clinical genetics.

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

S. Anazi, F. Alkuraya, E. Al-Sabban, 2014, Clinical genetics.

NPHP4 mutation is linked to cerebello‐oculo‐renal syndrome and male infertility

H. Hassan, A. Alazami, M. Baig, 2014, Clinical genetics.

Mutations in ALDH1A3 cause microphthalmia

M. Aldahmesh, H. Hijazi, A. Khan, 2013, Clinical genetics.

The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs

S. Coskun, K. Awartani, S. Maddirevula, 2017, Clinical genetics.

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

F. Alkuraya, 2013, Clinical genetics.

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

N. Shimozawa, R. Shaheen, M. Hashem, 2011, Clinical genetics.

5‐Oxoprolinase deficiency: report of the first human OPLAH mutation

M. Al-Amoudi, A. Al-odaib, F. Alkuraya, 2012, Clinical genetics.

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

F. Alkuraya, M. Alshammari, M. Al-shammari, 2011, Clinical genetics.

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency

B. Meyer, M. Abouelhoda, D. Monies, 2018, Clinical genetics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.

Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

H. Hassan, M. Mukhtar, H. Hijazi, 2015, Clinical genetics.

Epileptic encephalopathy with continuous spike‐and‐wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L

M. Abouelhoda, R. Shaheen, N. Ewida, 2016, Clinical genetics.

A lethal neonatal phenotype of mitochondrial short‐chain enoyl‐CoA hydratase‐1 deficiency

R. Rodenburg, F. Alkuraya, M. Alfadhel, 2017, Clinical genetics.

An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

F. Alkuraya, M. Al‐Owain, A. Alazami, 2011, Clinical genetics.

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome

F. Alkuraya, A. Alazami, Abdulrahman A Aldeeri, 2014, Clinical genetics.

A novel mutation in PRDM5 in brittle cornea syndrome

F. Alkuraya, M. Aldahmesh, F. Alkuraya, 2012, Clinical genetics.

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family

F. Alkuraya, L. Safieh, A.O. Khan, 2009, Molecular vision.

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

S. Schneider, K. Bhatia, J. Wuerfel, 2010, Clinical genetics.

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

F. Alkuraya, H. Chaabouni, M Chograni, 2015, Clinical genetics.

Homozygous truncation of SIX6 causes complex microphthalmia in humans

F. Alkuraya, M. Aldahmesh, H. Hijazi, 2013, Clinical genetics.

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

F. Alkuraya, 2013, Clinical genetics.