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1 . Academic Journal
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review
저자
by
Guangquan Chen
;
Shiyi Xiong
;
Gang Zou
;
Fengyu Wu
;
Xiaoxing Qu
, et al.
소스
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy
저자
by
Rabah M. Shawky
;
Solaf M. Elsayed
;
Theodor Todorov
;
Andree Zibert
;
Salem Alawbathani
, et al.
소스
Egyptian Journal of Medical Human Genetics, Vol 15, Iss 3, Pp 235-240 (2014)
Full Text (ScienceDirect)
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7 .
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation
저자
by
Mai Abd El Salam
;
Khaled Salama
;
Yasmeen M. M. Selim
;
Mariam Saad
;
Rasha Rady
, et al.
소스
Annals of Human Genetics
.
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7 .
Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder
저자
by
Christian A. E. Westrip
;
Franziska Paul
;
Fathiya Al-Murshedi
;
Hashim Qaitoon
;
Breana Cham
, et al.
소스
Open Access (OpenAIRE)
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7 .
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
저자
by
Azza Salah
;
Mohammed Almannai
;
Mode Al Ojaimi
;
Mandy Radefeldt
;
Nishtha Gulati
, et al.
소스
Clinical geneticsREFERENCES
. 101(5-6)
Scopus
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7 .
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities
저자
by
Aida M. Bertoli-Avella
;
Samah Al-Tawalbeh
;
Nadia Al-Hashmi
;
Melis Köse
;
Roberta Trunzo
, et al.
소스
Clinical genetics, 101(2), 247-254. Wiley-Blackwell
Scopus
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7 .
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype
저자
by
Suliman Khan
;
Aida M. Bertoli-Avella
;
Atia Sheereen
;
Iman Almohammed
;
Ingrid M.E. Frohn-Mulder
, et al.
소스
BASE-Bielefeld Academic Search Engine
Clinical Genetics, 98(1), 56-63. Wiley-Blackwell Publishing Ltd
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7 .
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
저자
by
Arndt Rolfs
;
Salem Alawbathani
;
Muhammad Nadeem Anjum
;
Aida M. Bertoli-Avella
;
Catarina Pereira
, et al.
소스
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-9 (2020)
NPJ Genomic Medicine
Open Access (OpenAIRE)
Scopus
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7 .
A teaching tool about the fickle p value and other statistical principles based on real-life data
저자
by
Yanhong Hou
;
Sarkawt Hamad
;
Xia Li
;
Salem Alawbathani
;
Martin C. Michel
, et al.
소스
Naunyn-Schmiedeberg's Archives of Pharmacology
Open Access (OpenAIRE)
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7 .
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations
저자
by
Gökhan Uyanik
;
Kerstin Becker
;
Peter Nürnberg
;
Hülya-Sevcan Daimagüler
;
Akgun Olmez
, et al.
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