Maryam Najafi

发表

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Analysis of TAP1333, TAP1637, TAP2379 Polymorphisms in Patients with Schizophrenia

N. Nazari, M. Najafi, D. K. Tamandani, 2016 .

Analysis of TAP1, TAP1, TAP2 Polymorphisms in Patients with Schizophrenia

N. Nazari, M. Najafi, D. K. Tamandani, 2016 .

Analysis of TAP 1 333 , TAP 1 637 , TAP 2 379 Polymorphisms in Patients with Schizophrenia

N. Nazari, M. Najafi, D. K. Tamandani, 2016 .

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

J. Rosenfeld, D. Trabzuni, S. Arold, 2021, Brain : a journal of neurology.

Isolation of biologically active Actinomycetes from untouched soils: a case study from Karaj district, Iran

E. Salehghamari, M. Najafi, Maryam Najafi, 2016 .

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

M. Schmidts, D. Antony, E. G. Karimiani, 2019, Front. Pediatr..

APOE and CPT1-A Promoter Methylation and Expression Profiles in Patients with Schizophrenia

D. Kordi-Tamandani, M. Najafi, Azizall Mojahad, 2014 .

Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia

M. Najafi, A. Khajeh, D. K. Kordi Tamandani, 2022, Disease and Diagnosis.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

H. Ahmadieh, M. Schmidts, N. Daftarian, 2021, Orphanet Journal of Rare Diseases.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

M. Tekin, Gaofeng Wang, S. Blanton, 2018, Human Genetics.

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

M. Schmidts, E. G. Karimiani, F. Behjati, 2019, Orphanet Journal of Rare Diseases.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

OP-BRAI190255 2948..2964

Nancy T. Malintan, M. Ryten, N. Boddaert, 2019 .

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Robert W. Taylor, R. Boostani, T. Haaf, 2018, BMC Medical Genetics.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Kiely N. James, P. Bauer, A. Caglayan, 2018, Journal of Medical Genetics.

Contribution of LATS1 and LATS2 promoter methylation in OSCC development

D. Kordi-Tamandani, M. Najafi, Mohammad Ayoub Rigi Ladiz, 2017, Journal of Cell Communication and Signaling.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.

H. Ahmadieh, M. Yaseri, F. Cremers, 2020, Archives of Iranian medicine.

Crosstalk between SHH and stemness state signaling pathways in esophageal squamous cell carcinoma

M. Abbaszadegan, A. Rad, S. Boroumand-Noughabi, 2017, Journal of Cell Communication and Signaling.

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

A. Köttgen, T. Meitinger, R. Backofen, 2022, Frontiers in Pediatrics.

M. Abbaszadegan, A. Rad, M. Najafi, 2016, Gene.

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

B. Venkatesh, M. Coleman, A. Bertoli-Avella, 2022, medRxiv.

Copper sulfate inhibits seizure activity induced by pentylenetetrazole in mice

Zahra Maghsoudi, M. Roghani, Z. Sabet, 2013 .

Association of Glutathione S-Transferase Gene Methylation with Risk of Schizophrenia in an Iranian Population

D. Kordi-Tamandani, M. Najafi, A. Mojahed, 2014, Pharmacology.

Evaluating the mRNA expression profile of APC in Pterygium

D. Kordi-Tamandani, M. Najafi, Mohammad Arish, 2015 .

Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

M. Schmidts, D. Kordi-Tamandani, M. Najafi, 2022, Journal of clinical medicine.

KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran

A. Rad, M. Ramahi, E. Shirzadeh, 2018, Avicenna journal of medical biotechnology.