Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome
Saved in:
| Date: | 2020 |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
2020
|
| Series: | Cytology and genetics |
| Online Access: | http://jnas.nbuv.gov.ua/article/UJRN-0001166407 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Journal Title: | Library portal of National Academy of Sciences of Ukraine | LibNAS |
Institution
Library portal of National Academy of Sciences of Ukraine | LibNASSimilar Items
Symptom Analytics of Business in the Service Industry
by: L. M. Chepurda, et al.
Published: (2015)
by: L. M. Chepurda, et al.
Published: (2015)
Factor of musical ear and peculiarities of negative symptoms of schizophreni
by: N. Kostiuchenko, et al.
Published: (2015)
by: N. Kostiuchenko, et al.
Published: (2015)
Біологічні особливості та трофічна спеціалізація жолудевої молі Blastobasis glandulella (Riley, 1871) (Blastobasidae) у Західному Поділлі
by: Sokolova, I. M.
Published: (2024)
by: Sokolova, I. M.
Published: (2024)
Phenotypic symptoms of the connective tissue dysplasia in children with the cardiovascular system pathology
by: I. H. Diemienkova
Published: (2019)
by: I. H. Diemienkova
Published: (2019)
The Symptom checklist by Leonard Derogatis (SCL-90-R): validation in Ukraine
by: S. Dembitskij, et al.
Published: (2015)
by: S. Dembitskij, et al.
Published: (2015)
The Symptom checklist by Leonard Derogatis (SCL-90-R): validation in Ukraine
by: S. Dembitskyi, et al.
Published: (2015)
by: S. Dembitskyi, et al.
Published: (2015)
Evaluating text coherence based on the graph of the consistency of phrases to identify symptoms of schizophrenia
by: Kramov, A. А.
Published: (2020)
by: Kramov, A. А.
Published: (2020)
Evaluating text coherence based on the graph of the consistency of phrases to identify symptoms of schizophrenia
by: A. Kramov
Published: (2020)
by: A. Kramov
Published: (2020)
The "glamourization” of political power as a symptom of the devaluation of political values
by: O. K. Shevchenko
Published: (2011)
by: O. K. Shevchenko
Published: (2011)
On the Existence of a Codimension 1 Completely Integrable Totally Geodesic Distribution on a Pseudo-Riemannian Heisenberg Group
by: Batat, W., et al.
Published: (2010)
by: Batat, W., et al.
Published: (2010)
Symptoms of the Problem of Guaranteeing the Economic Security of the State in the Context of Preventing and Countering Economic Crime
by: A. P. Dykyi
Published: (2022)
by: A. P. Dykyi
Published: (2022)
Drug therapy of lower urinary tract symptoms in patients with benign prostatic hyperplasia: what is new?
by: T. I. Ermolenko
Published: (2015)
by: T. I. Ermolenko
Published: (2015)
"The Death of the Politic" and its symptoms in institutional aspect of the modern post-soviet countries
by: O. Shevchenko
Published: (2013)
by: O. Shevchenko
Published: (2013)
Psychosemantics of grey color in Gu Cheng's creative work as the symptom of his mental depression, maniac habitude and suicidal ideation
by: A. Gul, et al.
Published: (2022)
by: A. Gul, et al.
Published: (2022)
A new method for investigating and accurately solving the one-dimensional quantum Ising model in constant and variable transverse magnetic fields
by: A. Heidari, et al.
Published: (2013)
by: A. Heidari, et al.
Published: (2013)
A new method for investigating and accurately solving the one-dimensional quantum Ising model in constant and variable transverse magnetic fields
by: A. Heidari, et al.
Published: (2013)
by: A. Heidari, et al.
Published: (2013)
Синтез нових 1-гідроксі-1,1-бісфосфонових кислот
by: Kolodiazhna, Anastasiia O., et al.
Published: (2025)
by: Kolodiazhna, Anastasiia O., et al.
Published: (2025)
A Note on the Recursive Sequence xn+1=pkxn+pk−1xn−1+...+p1xn−k+1
by: Stevic, S.
Published: (2003)
by: Stevic, S.
Published: (2003)
On the recursive sequence x(n+1)=xn-(k+1)/1+xnxn-1...xn-k
by: Simsek, D., et al.
Published: (2017)
by: Simsek, D., et al.
Published: (2017)
On the recursive sequence x(n+1)=xn-(k+1)/1+xnxn-1...xn-k
by: D. Şimşek, et al.
Published: (2017)
by: D. Şimşek, et al.
Published: (2017)
Genomic study of Covid¬19 corona virus excludes its origin from recombination or characterized biological sources and suggests a role for hervs in its wide range symptoms
by: A. M. El¬Shehawi, et al.
Published: (2020)
by: A. M. El¬Shehawi, et al.
Published: (2020)
Characterization of weakly Berwald fourth root metrics
by: T. R. Khoshdani, et al.
Published: (2019)
by: T. R. Khoshdani, et al.
Published: (2019)
Химия 1,1-дигидрополифторнитроалканов. 1. Химические превращения 2,2-дифторнитроэтана
by: Шкепу, В.И., et al.
Published: (2011)
by: Шкепу, В.И., et al.
Published: (2011)
Seed set and other productivity traits in common wheat F1 plants with the 1BL/1RS and 1AL/1RS translocations
by: I. O. Sozinov, et al.
Published: (2016)
by: I. O. Sozinov, et al.
Published: (2016)
Structure and stability of complexes of palladium (II) with 1-aminobutylidene-1,1-bisphosphonic acid
by: V. I. Pekhno, et al.
Published: (2015)
by: V. I. Pekhno, et al.
Published: (2015)
On the spectrum of Cayley graphs
by: Ghorbani, M., et al.
Published: (2021)
by: Ghorbani, M., et al.
Published: (2021)
Truncation error bounds for branched continued fraction $\sum_{i_1=1}^N\frac{a_{i(1)}}{1}{\atop+}\sum_{i_2=1}^{i_1}\frac{a_{i(2)}}{1}{\atop+}\sum_{i_3=1}^{i_2}\frac{a_{i(3)}}{1}{\atop+}\ldots$
by: Antonova, T. M., et al.
Published: (2020)
by: Antonova, T. M., et al.
Published: (2020)
Polymorphism in the short arm of 1R rye chromosomes in wheat lines with 1RS.1BL translocation and 1R(1B) substitution from different sources
by: M. K. Toporash, et al.
Published: (2018)
by: M. K. Toporash, et al.
Published: (2018)
A Note on the Recursive Sequence $x_{n + 1} = p_kx_n + p_{k − 1}x_{n − 1} +...+ p_1x_{n − k + 1}$
by: Stevic, S., et al.
Published: (2003)
by: Stevic, S., et al.
Published: (2003)
Application of PCR markers for detecting 1BL.1RS wheat-rye chromosome translocations and (1B)1R substitutions
by: I. I. Motsny, et al.
Published: (2014)
by: I. I. Motsny, et al.
Published: (2014)
Application of PCR markers for detecting 1BL.1RS wheat-rye chromosome translocations and (1B)1R substitutions
by: Motsny, I.I., et al.
Published: (2014)
by: Motsny, I.I., et al.
Published: (2014)
Thermoelastic damping in FGM nano-electromechanical system in axial vibration based on Eringen nonlocal theory
by: Rahimi, Z., et al.
Published: (2017)
by: Rahimi, Z., et al.
Published: (2017)
Thermoelastic damping in FGM nano-electromechanical system in axial vibration based on Eringen nonlocal theory
by: Z. Rahimi, et al.
Published: (2017)
by: Z. Rahimi, et al.
Published: (2017)
Racah Polynomials and Recoupling Schemes of su(1,1)
by: Post, S.
Published: (2015)
by: Post, S.
Published: (2015)
Study on possible role of CYP1A1, GSTT1, GSTM1, GSTP1, NAT2 and ADRB2 genes polymorphisms in bronchial asthma development in children
by: Tatarskyy, P.F., et al.
Published: (2011)
by: Tatarskyy, P.F., et al.
Published: (2011)
Meiosis analysis in soft winter wheat varieties – carriers of wheat-rye translocations 1BL.1RS and 1AL.1RS
by: I. I. Lialko, et al.
Published: (2018)
by: I. I. Lialko, et al.
Published: (2018)
Σ-асимметрия и сечения в (1⁻,0)–, (1⁻,1)– каналах фотоделения ядра ²³²Th
by: Хвастунов, В.М.
Published: (1999)
by: Хвастунов, В.М.
Published: (1999)
1-Функціонально заміщені похідні піроло[1,2-a]хіназолін-5(1Н)-онів
by: Васькевич, Р.І., et al.
Published: (2023)
by: Васькевич, Р.І., et al.
Published: (2023)
BestL1-approximations of classes $W_1^r$ by Splines from $W_1^r$
by: Babenko, V. F., et al.
Published: (1994)
by: Babenko, V. F., et al.
Published: (1994)
Identification of genotypes with recombinant arm 1RS in bread wheat segregating F5 populations from crosses between carriers of 1BL.1RS AND 1AL.1RS
by: N. O. Kozub, et al.
Published: (2022)
by: N. O. Kozub, et al.
Published: (2022)