Search Results - "QUBBAJ, Wafa"

Noninvasive Digital Detection of Fetal DNA in Plasma of 4-Week-Pregnant Women following In Vitro Fertilization and Embryo Transfer by Karakas, Bedri, Qubbaj, Wafa, Al-Hassan, Saad, Coskun, Serdar

“…The discovery of cell-free fetal DNA (cfDNA) circulating in the maternal blood has provided new opportunities for noninvasive prenatal diagnosis (NIPD)…”
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Recurrent spontaneous oocyte activation causes female infertility by Coskun, Serdar, Maddirevula, Sateesh, Awartani, Khalid, Aldeery, Meshael, Qubbaj, Wafa, Kashir, Junaid, Alkuraya, Fowzan S.

“…Purpose Spontaneous oocyte activation (SOA) is a recently classified phenomenon characterized by the presence of a single pronucleus immediately following…”
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Male Infertility in Robertsonian Translocation: A Case Report by Almesned, Razan K, Alsuhaibani, Shaheed S, Alali, Hamed J, Qubbaj, Wafa A, Al Hathal, Naif K

“…BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic…”
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Successful bone marrow transplantation for treatment of chronic myeloid leukemia from a donor with mosaic klinefelter syndrome by ISMAIL, Said, QUBBAJ, Wafa, KILANI, Mona, HIJAZI, Miza, ABDELNOUR, Amid, AL-KHATEEB, Mohammed S, AWIDI, Abdalla

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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro by Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., Stock-Myer, Sharyn E., Wilton, Leeanda J., Jaroudi, Souraya, Wells, Dagan, Brown, Anthony P.C., Handyside, Alan H.

“…Purpose: Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with the accuracy of…”
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases by Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

“…Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and…”
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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay by Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

“…Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport…”
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First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism by Qubbaj, Wafa, Al-Swaid, Abdulrahman, Al-Hassan, Saad, Awartani, Khalid, Deek, Hesham, Coskun, Serdar

“…Abstract Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in infancy. Early surgical intervention is usually required to prevent…”
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Noninvasive Digital Detection of Fetal DNA in Plasma of 4-Week-Pregnant Women following In Vitro Fertilization and Embryo Transfer: e0126501 by Karakas, Bedri, Qubbaj, Wafa, Al-Hassan, Saad, Coskun, Serdar

“…The discovery of cell-free fetal DNA (cfDNA) circulating in the maternal blood has provided new opportunities for noninvasive prenatal diagnosis (NIPD)…”
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Preimplantation genetic diagnosis of Morquio disease by Qubbaj, Wafa, Al-Aqeel, Aida I., Al-Hassnan, Zuhair, Al-Duraihim, Adel, Awartani, Khalid, Al-Rejjal, Rafat, Coskun, Serdar

“…Objectives Morquio syndrome is an autosomal recessive disease and mutations in the N‐acetylgalactosamine 6‐sulfate sulfatase (GALNS) gene cause Morquio type A…”
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Successful Bone Marrow Transplantation for Treatment of Chronic Myeloid Leukemia from a Donor with Mosaic Klinefelter Syndrome by Ismail, Said, Qubbaj, Wafa, Kilani, Mona, Hijazi, Miza, Abdelnour, Amid, Al-khateeb, Mohammed S., Awidi, Abdalla

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Approaches towards the prevention of haemoglobinopathies in Jordan by Qubbaj, Wafa Ahmed

“…The basic aim of this thesis was to define a suitable approach for the prevention of thalassaemia in Jordan. A detailed epidemiological analysis produced an…”
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Successful bone marrow transplantation for treatment of chronic myeloid leukemia from a donor with mosaic Klinefelter syndrome by Ismail, Said, Qubbaj, Wafa, Kilani, Mona, Hijazi, Miza, Abdelnour, Amid, Al-Khateeb, Mohammed S, Awidi, Abdalla

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