Hasan Tawamie

发表

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

A. Mégarbané, A. Bertoli-Avella, Ruslan Al-Ali, 2021, Clinical genetics.

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

R. Abou Jamra, H. Sticht, A. Reis, 2017, American journal of human genetics.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

A. Ekici, R. Abou Jamra, F. Bernier, 2014, American journal of human genetics.

Recurrent null mutation in SPG20 leads to Troyer syndrome.

M. Nöthen, R. Abou Jamra, E. Wohlleber, 2015, Molecular and cellular probes.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

M. Nöthen, N. Tommerup, Y. Mang, 2013, American journal of human genetics.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

T. Strom, A. Ekici, M. Reuter, 2017, JAMA psychiatry.

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

H. Bokhoven, S. Riazuddin, Z. Iqbal, 2019, Genetics in Medicine.

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

M. Aigner, H. Sticht, A. Reis, 2014, PLoS genetics.

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Peter Nürnberg, Arif B Ekici, André Reis, 2015, eLife.

TALPID 3 controls centrosome and cell polarity and the human ortholog KIAA 0586 is 1 mutated in Joubert syndrome ( JBTS 23 ) 2 3

Peter Nürnberg, Arif B Ekici, André Reis, 2015 .

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

R. Abou Jamra, H. Sticht, A. Reis, 2015, Human mutation.

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

A. Ekici, R. Abou Jamra, A. Reis, 2013, European journal of medical genetics.

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

H. Bokhoven, S. Riazuddin, Z. Iqbal, 2019, Genetics in Medicine.

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability

R. Abou Jamra, H. Sticht, A. Reis, 2015, Human Mutation.