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Search Results - El-Dessouky, Sara H.
Search Results - El-Dessouky, Sara H.
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Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant
by
El‐Dessouky, Sara H.
,
Issa, Mahmoud Y.
,
Aboulghar, Mona M.
,
Gaafar, Hassan M.
,
Elarab, Ahmed Ezz
,
Ateya, Mohamed I.
,
Omar, Heba H.
,
Beetz, Christian
,
Zaki, Maha Saad
Published in
American journal of medical genetics. Part A
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Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?”
by
Abdel‐Salam, Ghada M. H.
,
El‐Dessouky, Sara H.
,
Aboulghar, Mona M.
,
Eid, Maha M.
Published in
Prenatal diagnosis
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Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
by
El‐Dessouky, Sara H.
,
Abdel‐Hamid, Mohamed S.
,
Abdel‐Ghafar, Sherif F.
,
Aboulghar, Mona M.
,
Gaafar, Hassan M.
,
Fouad, Mona
,
Ahmed, Adel H.
,
Abdel‐Salam, Ghada M. H.
Published in
Prenatal diagnosis
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Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations
by
El‐Dessouky, Sara H.
,
Aboulghar, Mona M.
,
Gaafar, Hassan M.
,
Abdella, Rana M.
,
Sharaf, Marwa F.
,
Ateya, Mohamed I.
,
Elarab, Ahmed Ezz
,
Zidan, Walaa H.
,
Helal, Rania M.
,
Aboelsaud, Samah M.
,
Eid, Maha M.
,
Abdel‐Salam, Ghada M.H.
Published in
Prenatal diagnosis
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Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly
by
Abdel‐Hamid, Mohamed S.
,
El‐Dessouky, Sara H.
,
Ateya, Mohamed I.
,
Gaafar, Hassan M.
,
Abdel‐Salam, Ghada M.H.
Published in
American journal of medical genetics. Part A
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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2
by
El‐Ruby, Mona
,
El‐Din Fayez, Alaa
,
El‐Dessouky, Sara H.
,
Aglan, Mona S.
,
Mazen, Inas
,
Ismail, Nora
,
Afifi, Hanan H.
,
Eid, Maha M.
,
Mostafa, Mostafa I.
,
Mehrez, Mennat I.
,
Khalil, Yasmin
,
Zaki, Maha S.
,
Gaber, Khaled R.
,
Abdel‐Hamid, Mohamed S.
,
Abdel‐Salam, Ghada M. H.
Published in
American journal of medical genetics. Part A
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MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
by
Eid, Ola M
,
Eid, Maha M
,
Farid, Marwa
,
Abdel Kader, Rania M. A
,
Mahrous, Rana
,
El-Dessouky, Sara H
Published in
Journal of Genetic Engineering and Biotechnology
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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect
by
Thomas, Manal M.
,
Ahmed, Heba Mostafa
,
El-Dessouky, Sara H.
,
Ramadan, Abeer
,
Botrous, Osama Ezzat
,
Abdel-Hamid, Mohamed S.
Published in
Molecular genetics and genomics : MGG
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Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect
by
El-Dessouky, Sara H
,
Sharaf-Eldin, Wessam E
,
Aboulghar, Mona M
,
Ebrashy, Alaa
,
Senousy, Sameh M
,
Elarab, Ahmed Ezz
,
Gaafar, Hassan M
,
Ateya, Mohamed I
,
Abdelfattah, Ahmed N
,
Saad, Ahmed K
,
Zolfokar, Dalia S
,
Fouad, Mona M
,
Abdella, Rana M
,
Sharaf, Marwa F
,
Issa, Mahmoud Y
,
Matsa, Lova S
,
Aref, Haissam
,
Soliman, Samar H
,
Al-Bellehy, Muhamed A
,
Abdel-Aziz, Nahla N
,
ElHodiby, Mohamed E
,
Abdou, Haitham K
,
Eid, Maha M
,
Zaki, Maha S
,
Abdalla, Ebtesam M
Published in
Prenatal diagnosis
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Prenatal presentation of Walker-Warburg syndrome with a POMT2 mutation: an extended fetal phenotype
by
El-Dessouky, Sara H
,
Hosny, Heba
,
Elarab, Ahmed Ezz
,
Issa, Mahmoud Y
Published in
The Egyptian journal of medical human genetics
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Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
by
Abdel-Hamid, Mohamed S.
,
Sabry, Sahar
,
Abdel-Ghafar, Sherif F.
,
El-Dessouky, Sara H.
,
Abdel-Salam, Ghada M. H.
Published in
Neurogenetics
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Peer Reviewed
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Articles
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Journal Title
Prenatal Diagnosis
4 results
4
American Journal Of Medical Genetics. Part A
3 results
3
Egyptian Journal Of Medical Human Genetics
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1
Journal Of Genetic Engineering And Biotechnology
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Journal Of Genetic Engineering And Biotechnology /Journal Of Genetic Engineering And Biotechnology
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Journal, Genetic Engineering & Biotechnology
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Molecular Genetics And Genomics : Mgg
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Neurogenetics
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The Egyptian Journal Of Medical Human Genetics
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The Egyptian Journal Of Medical Human Genetics /The Egyptian Journal Of Medical Human Genetics
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Life Sciences & Biomedicine
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Science & Technology
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Genetics & Heredity
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Fetuses
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Mutation
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Phenotypes
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Cerebellum
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Corpus Callosum
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Humans
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Obstetrics & Gynecology
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Prenatal Diagnosis
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Ultrasound
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Biomedical And Life Sciences
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Cerebral Hemispheres
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Congenital Defects
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Congenital Heart Disease
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Female
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Genetic Counseling
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Genotypes
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Holoprosencephaly
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Wiley Blackwell Journals
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Wiley-Blackwell Read & Publish Collection
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Road: Directory Of Open Access Scholarly Resources
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