Patra Yeetong

发表

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

K. Suphapeetiporn, V. Shotelersuk, R. Bhidayasiri, 2012, European Journal of Human Genetics.

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

M. Bahlo, C. Srichomthong, K. Suphapeetiporn, 2020, European journal of human genetics : EJHG.

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

B. Ciruna, J. Wallingford, Chanjae Lee, 2018, PLoS genetics.

Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development

J. Wallingford, Ryan S. Gray, K. Suphapeetiporn, 2018, bioRxiv.

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

K. Suphapeetiporn, V. Shotelersuk, Taninee Sahakitrungruang, 2008, Fertility and sterility.

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome

K. Suphapeetiporn, V. Shotelersuk, P. Siriwan, 2009, American journal of medical genetics. Part A.

Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant

G. Laje, W. Gahl, M. Huizing, 2016, American journal of medical genetics. Part A.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

D. Eyre, I. Kennerknecht, A. Janecke, 2016, Nature Communications.

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2012, American journal of medical genetics. Part A.

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2015, Dermatology.

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

K. Suphapeetiporn, V. Shotelersuk, Patra Yeetong, 2017, World Journal of Pediatrics.

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3

M. Wentink, G. Driessen, P. Chatchatee, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

K. Suphapeetiporn, V. Shotelersuk, Taninee Sahakitrungruang, 2016, BMC Endocrine Disorders.

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Chaipat Chunharas, Monnat Pongpanich, Vorasuk Shotelersuk, 2019, Brain : a journal of neurology.

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

K. Suphapeetiporn, V. Shotelersuk, Wuttichart Kamolvisit, 2018, Skeletal Radiology.

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

C. Srichomthong, V. Shotelersuk, T. Kumutpongpanich, 2023, Neuromuscular Disorders.

Two novel CTNS mutations in cystinosis patients in Thailand.

W. Gahl, K. Suphapeetiporn, V. Shotelersuk, 2012, Gene.

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

C. Srichomthong, V. Shotelersuk, T. Kumutpongpanich, 2023, Neuromuscular Disorders.

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

B. Ciruna, J. Wallingford, Chanjae Lee, 2018, PLoS genetics.

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy

K. Suphapeetiporn, V. Shotelersuk, V. Puangsricharern, 2014, British Journal of Ophthalmology.