M. Kariminejad

发表

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

M. Baumgartner, A. Kariminejad, J. Häberle, 2011, Journal of Inherited Metabolic Disease.

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

A. Kariminejad, K. Hosseini, R. Kariminejad, 2017, Case reports in genetics.

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

A. Kariminejad, M. S. van der Knaap, P. Karimzadeh, 2015, European journal of medical genetics.

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

R. Hennekam, A. Kariminejad, H. Najmabadi, 2014, The Journal of investigative dermatology.

Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

A. Kariminejad, C. Giunta, B. Steinmann, 2010, Iranian journal of pediatrics.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Analysis of BRCA1 and BRCA2 mutations in an Iranian family with hereditary breast and ovarian cancer syndrome

S. Narod, R. Moslehi, M. Kariminejad, 2003, American journal of medical genetics. Part A.

Microcephalic Osteodysplastic Primordial Dwarfism Type I in Two Siblings Aged 2.5 Years and 18 Gesta- tional Weeks

A. Kariminejad, G. Lesca, P. Edery, 2015 .

Gonadoblastoma associated with mixed gonadal dysgenesis.

M. Kariminejad, M. A. Movlavi, M. A. Nasserghodssi, 1972, American journal of obstetrics and gynecology.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia

S. Salipante, N. Rezaei, M. Horwitz, 2007, Human mutation.

Amelia, cleft lip, and holoprosencephaly: A distinct entity

A. Kariminejad, A. Asghari-Roodsari, M. Kariminejad, 2009, American journal of medical genetics. Part A.

Clinical variability in acro‐cardio‐facial‐syndrome

A. Kariminejad, Navid Almadani, M. S. Sedighi Gilani, 2008, American journal of medical genetics. Part A.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

A. Kariminejad, W. Rizzo, E. Keshavarz, 2017, European journal of medical genetics.

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.