Aslıhan Tolun

ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 11

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Journal of human genetics

The EMBO journal

Bogazici University

Uppsala Universitet (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Bogazici University Dec 30 1981

Turkey

Prof. :: Molecular Biology and Genetics

Education History

Uppsala Universitet Feb 01 1973 - Oct 15 1979

Sweden

PHD :: Vetenskaplit Mikrobiology

Publications

Mine Koprulu, Muhammad Naeem, Gökhan Nalbant, Rana M Kamran Shabbir, Tariq Mahmood, Zele Huma, Sajid Malik, Aslıhan Tolun
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies. European journal of human genetics : EJHG 30 (11) (2022)
Sajid Malik, Gökhan Nalbant, Moqadsa Noreen, Muhammad Afzal, Aslıhan Tolun
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods. American journal of medical genetics. Part A (2021)
Danilo B Medinas, Sajid Malik, Esra Yıldız-Bölükbaşı, Janina Borgonovo, Mirva J Saaranen, Hery Urra, Eduardo Pulgar, Muhammad Afzal, Darwin Contreras, Madison T Wright, Felipe Bodaleo, Gabriel Quiroz, Pablo Rozas, Sara Mumtaz, Rodrigo Díaz, Carlos Rozas, Felipe Cabral-Miranda, Ricardo Piña, Vicente Valenzuela, Ozgun Uyan, Christopher Reardon, Ute Woehlbier, Robert H Brown, Miguel Sena-Esteves, Christian Gonzalez-Billault, Bernardo Morales, Lars Plate, Lloyd W Ruddock, Miguel L Concha, Claudio Hetz, Aslıhan Tolun
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. The EMBO journal 41 (2) (2021)
Mine Koprulu, Aneeta Kumare, Anisa Bibi, Sajid Malik, Aslıhan Tolun
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1. American journal of medical genetics. Part A 185 (6) (2021)
Qandeel Zahra, Çağla Çakmak, Mine Koprulu, Muhammad Shuaib, Nara Sobreira, Louisa Kalsner, Joselito Sobreira, Maria J Guillen Sacoto, Sajid Malik, Aslıhan Tolun
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. Journal of human genetics 65 (12) (2020)
Esra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir, Sajid Malik, Aslıhan Tolun
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. Journal of human genetics 66 (2) (2020)
Rezan Nehir Mavioğlu, Bülent Kara, Gür Akansel, Gökhan Nalbant, Aslıhan Tolun
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. Clinical genetics 96 (5) (2019)
Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. European journal of human genetics : EJHG 26 (6) (2018)
İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabri Hançer, Eda Tahir Turanli
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing Turkish journal of haematology : official journal of Turkish Society of Haematology 36 (1) (2018)
Burcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk, Cengiz Yakicier, Aslıhan Tolun, Sehime Gulsun Temel
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human mutation 39 (10) (2018)
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. American journal of medical genetics. Part A 173 (9) (2017)

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Publication Activity (10 Years)

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Aslıhan Tolun