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	1.	Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method. [electronic resource] by Abdalla, Ebtesam M Producer: 20151105 In: The Journal of the Egyptian Public Health Association vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	2.	A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome. [electronic resource] by Abdalla, Ebtesam M Has, Cristina Producer: 20150108 In: Molecular syndromology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection. [electronic resource] by Abdalla, Ebtesam Mohamed Zayed, Louay Hassan Producer: 20150629 In: Journal of child neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. [electronic resource] by Abdalla, Ebtesam Mohamed Nabil, Karim Mahmoud Producer: 20120926 In: Ophthalmic genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant. [electronic resource] by Abdalla, Ebtesam M El-Beheiry, Ahmed A Publication details: Journal of pediatric genetics Jun 2017 In: Journal of pediatric genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene. [electronic resource] by Abdalla, Ebtesam Bartsch, Oliver Galetzka, Danuta Zechner, Ulrich Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Postmortem clinical examination by experienced clinical geneticists as an alternative to conventional autopsy for assessment of fetal and perinatal deaths in countries with limited resources. [electronic resource] by Abdalla, Ebtesam M El Desouky, Lubna M Hassanein, Nargues M Producer: 20160830 In: The Turkish journal of pediatrics vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	8.	Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families. [electronic resource] by Abdalla, Ebtesam M Hayward, Bruce E Shamseddin, Ahmed Nawar, Mona M Producer: 20130226 In: European journal of obstetrics, gynecology, and reproductive biology vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss. [electronic resource] by Fassad, Mahmoud R Desouky, Lubna M Asal, Samir Abdalla, Ebtesam M Producer: 20150310 In: International journal of molecular epidemiology and genetics vol. 5 Availability: No items available. Save to lists Add to cart (remove)
	10.	Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. [electronic resource] by Abdalla, Ebtesam Ravenscroft, Gianina Zayed, Louay Beecroft, Sarah J Laing, Nigel G Producer: 20180316 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	β-Globin Mutations in Egyptian Patients With β-Thalassemia. [electronic resource] by Elmezayen, Ammar D Kotb, Samia M Sadek, Nadia A Abdalla, Ebtesam M Producer: 20160707 In: Laboratory medicine vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family. [electronic resource] by Abdalla, Ebtesam M Mostowska, Adrianna Jagodziński, Paweł P Dwidar, Karin Ismail, Suzan R Producer: 20150113 In: Archives of oral biology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	De novo EDA mutations: Variable expression in two Egyptian families. [electronic resource] by Gaczkowska, Agnieszka Abdalla, Ebtesam M Dowidar, Karin M L Elhady, Ghada M Jagodzinski, Pawel P Mostowska, Adrianna Producer: 20170331 In: Archives of oral biology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. [electronic resource] by Seifi, Morteza Footz, Tim Taylor, Sherry A M Elhady, Ghada M Abdalla, Ebtesam M Walter, Michael A Producer: 20170125 In: Acta ophthalmologica vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype. [electronic resource] by Abdalla, Ebtesam M Rohrbach, Marianne Bürer, Céline Kraenzlin, Marius El-Tayeby, Hazem Elbelbesy, Mervat F Nabil, Amira Giunta, Cecilia Producer: 20151006 In: European journal of pediatrics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. [electronic resource] by Kalay, Ersan Sezgin, Orhan Chellappa, Vasant Mutlu, Mehmet Morsy, Heba Kayserili, Hulya Kreiger, Elmar Cansu, Aysegul Toraman, Bayram Abdalla, Ebtesam Mohammed Aslan, Yakup Pillai, Shiv Akarsu, Nurten A Producer: 20120312 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. [electronic resource] by Reddy, Ramesh Nguyen, Ngoc M P Sarrabay, Guillaume Rezaei, Maryam Rivas, Mayra C G Kavasoglu, Aysenur Berkil, Hakan Elshafey, Alaa Abdalla, Ebtesam Nunez, Kristin P Dreyfus, Hélène Philippe, Merviel Hadipour, Zahra Durmaz, Asude Eaton, Erin E Schubert, Brittany Ulker, Volkan Hadipour, Fatemeh Touitou, Isabelle Fardaei, Majid Slim, Rima Publication details: European journal of human genetics : EJHG 10 2016 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions. [electronic resource] by Reddy, Ramesh Nguyen, Ngoc M P Sarrabay, Guillaume Rezaei, Maryam Rivas, Mayra C G Kavasoglu, Aysenur Berkil, Hakan Elshafey, Alaa Abdalla, Ebtesam Nunez, Kristin P Dreyfus, Hélène Philippe, Merviel Hadipour, Zahra Durmaz, Asude Eaton, Erin E Schubert, Brittany Ulker, Volkan Hadipour, Fatemeh Ahmadpour, Fatemeh Touitou, Isabelle Fardaei, Majid Slim, Rima Producer: 20170616 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. [electronic resource] by Giunta, Cecilia Baumann, Matthias Fauth, Christine Lindert, Uschi Abdalla, Ebtesam M Brady, Angela F Collins, James Dastgir, Jahannaz Donkervoort, Sandra Ghali, Neeti Johnson, Diana S Kariminejad, Ariana Koch, Johannes Kraenzlin, Marius Lahiri, Nayana Lozic, Bernarda Manzur, Adnan Y Morton, Jenny E V Pilch, Jacek Pollitt, Rebecca C Schreiber, Gudrun Shannon, Nora L Sobey, Glenda Vandersteen, Anthony van Dijk, Fleur S Witsch-Baumgartner, Martina Zschocke, Johannes Pope, F Michael Bönnemann, Carsten G Rohrbach, Marianne Producer: 20181002 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. [electronic resource] by Makrythanasis, Periklis Nelis, Mari Santoni, Federico A Guipponi, Michel Vannier, Anne Béna, Frédérique Gimelli, Stefania Stathaki, Elisavet Temtamy, Samia Mégarbané, André Masri, Amira Aglan, Mona S Zaki, Maha S Bottani, Armand Fokstuen, Siv Gwanmesia, Lorraine Aliferis, Konstantinos Bustamante Eduardo, Mariana Stamoulis, Georgios Psoni, Stavroula Kitsiou-Tzeli, Sofia Fryssira, Helen Kanavakis, Emmanouil Al-Allawi, Nasir Sefiani, Abdelaziz Al Hait, Sana' Elalaoui, Siham C Jalkh, Nadine Al-Gazali, Lihadh Al-Jasmi, Fatma Bouhamed, Habiba Chaabouni Abdalla, Ebtesam Cooper, David N Hamamy, Hanan Antonarakis, Stylianos E Producer: 20150609 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 21 results.