Cover Image

Bohring-Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing

Saved in:

Bibliographic Details
Main Authors:	Ching-Ming Lin (Author), Chien-Ming Lin (Author), Sheng-Yuan Ho (Author)
Format:	Book
Published:	Elsevier, 2024-11-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
by: Weiqing Zhao, et al.
Published: (2021)

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention
by: Hongli Liu, et al.
Published: (2020)

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia
by: Dafeng Lin, et al.
Published: (2023)

Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema
by: Neda M. Bogari, et al.
Published: (2020)

Whole exome sequencing analysis of 167 men with primary infertility
by: Haiyan Zhou, et al.
Published: (2024)

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
by: Irit Tirosh, et al.
Published: (2019)

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients
by: Shaghayegh SABRI, et al.
Published: (2016)

Whole-exome sequencing of a pedigree segregating asthma
by: DeWan Andrew T, et al.
Published: (2012)

Genomics and tumor microenvironment of breast mucoepidermoid carcinoma based on whole-exome and RNA sequencing
by: Yan Ge, et al.
Published: (2024)

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
by: Dae Joong Ma, et al.
Published: (2021)

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
by: Jun Wang, et al.
Published: (2020)

Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a Mutation Detected Using Whole Exome Sequencing
by: Seong Bae Ahn, et al.
Published: (2021)

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
by: Shuang Zhang, et al.
Published: (2023)

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome
by: Shao-Wen Wu, et al.
Published: (2021)

The atom and the Bohr theory of its structure
by: Holst, Helge, 1871-1944; Kramers, Hendrik Anthony, 1894-1952; Rutherford, Ernest, 1871-1937 [Author of introduction, etc.]; Lindsay, Rachel T., 1898-1990 [Translator]; Lindsay, Robert Bruce, 1900-1985 [Translator]

Trio-based whole exome sequencing in patients with ectopic posterior pituitary
by: Arthur Lyra, et al.
Published: (2024)

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
by: Tawfiq Froukh, et al.
Published: (2020)

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing
by: Perihan Hamdy Kassem, et al.
Published: (2024)

Whole‐exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma
by: Timothy M D'Alfonso, et al.
Published: (2021)

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing
by: Yeran Yang, et al.
Published: (2021)

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
by: Ashish Kumar Singh, et al.
Published: (2023)

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab
by: S. Signa, et al.
Published: (2019)

Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies
by: Dan Sun, et al.
Published: (2021)

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature
by: Zilong Qiu, et al.
Published: (2022)

Identification of Novel Gene variants in Patients with Alzheimer's Disease by Whole Exome Sequencing
by: Xiaodong Pan, et al.
Published: (2020)

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
by: Victor Borda, et al.
Published: (2021)

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis
by: Paula Cristina Barros Pereira, et al.
Published: (2015)

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis
by: Paula Cristina Barros Pereira, et al.
Published: (2015)

Mapping of the mutational landscape of Juvenile Myelomonocytic Leukemia patients by whole exome sequencing
by: Aditya Kumar Gupta, et al.
Published: (2024)

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability
by: Yoon Hee Jo, et al.
Published: (2024)

Whole-Exome Sequencing: Is It a Panacea for Every Diagnostic Enigma in Clinical Medicine?
by: Kirtisudha Mishra
Published: (2024)

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
by: Alain Calender, et al.
Published: (2018)

Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing
by: Perihan Hamdy Kassem, et al.
Published: (2024)

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
by: Zhu Xintong, et al.
Published: (2023)

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
by: Wei Huang, et al.
Published: (2023)

mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
by: Kyoung Hee Han, et al.
Published: (2019)

Identification of potential causal variants for premature ovarian failure by whole exome sequencing
by: Haengun Jin, et al.
Published: (2020)

Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma
by: Ping Hou, et al.
Published: (2021)

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
by: Lin Zhang, et al.
Published: (2020)

Genomic signatures and prognosis of advanced stage Chinese pediatric T cell lymphoblastic lymphoma by whole exome sequencing
by: Qinglin Liu, et al.
Published: (2023)