P. Jamali

发表

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

MFSD8 gene mutations; evidence for phenotypic heterogeneity

H. K. Khorram Khorshid, P. Jamali, Afagh Alavi, 2019, Ophthalmic genetics.

Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

H. Ropers, A. Kariminejad, V. Kalscheuer, 2019, Clinical genetics.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2011, Archives of medical science : AMS.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

K. Kahrizi, H. Najmabadi, C. Nishimura, 2009, European Journal of Pediatrics.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

A. Kariminejad, H. Najmabadi, Richard J. H. Smith, 2019, Iranian journal of public health.

Does Preemptive Gabapentin Reduce Morphine Consumption and Remaining Leg Pain After Lumbar Discectomy?: A Randomized Double-blind, Placebo-controlled Clinical Trial

A. Shoeibi, M. Shimia, P. Vahedi, 2011 .

Effect of inbreeding on intellectual disability revisited by trio sequencing

T. Wienker, H. Ropers, V. Kalscheuer, 2018, Clinical genetics.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

H. Stehr, H. Ropers, A. Tzschach, 2013, American journal of medical genetics. Part A.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Wei Chen, S. Lenzner, H. Ropers, 2007, Human Genetics.

Refractive Errors and Amblyopia in Children Entering School: Shahrood, Iran

A. Fotouhi, H. Hashemi, M. Younesian, 2009, Optometry and vision science : official publication of the American Academy of Optometry.

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

K. Kahrizi, H. Najmabadi, H. Azaiez, 2020, Journal of Human Genetics.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

A. Kariminejad, H. Najmabadi, Z. Chavoshzadeh, 2019, Cell journal.

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

M. Nothnagel, F. Bahrami, K. Kahrizi, 2020, Clinical genetics.

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2007, American journal of medical genetics. Part A.

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2012, International journal of pediatric otorhinolaryngology.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

H. Ropers, A. Tzschach, K. Kahrizi, 2009, European Journal of Human Genetics.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

M. Rohani, P. Jamali, A. Alavi, 2023, The International journal of neuroscience.

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

K. Kahrizi, H. Najmabadi, H. Azaiez, 2020, Journal of Human Genetics.

PRESCHOOL VISION SCREENING PROGRAM: COVERAGE, VALIDITY AND OUTCOME

A. Fotouhi, Hashemi Hasan, P. Jamali, 2007 .