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	81.	Laryngeal stenosis in a patient with severe congenital neutropenia. [electronic resource] by Bando, Hideki Nagao, Hikaru Nishio, Takeshi Hirota, Ryuichi Sakaguchi, Hirofumi Imamura, Toshihiko Hisa, Yasuo Producer: 20130408 In: The Laryngoscope vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. [electronic resource] by Chung, Hae-Sun Koh, Kyung Nam Kim, Hee-Jung Kim, Hee-Jin Lee, Ki-O Park, Chan-Jeoung Chi, Hyun-Sook Kim, Sun-Hee Seo, Jong-Jin Im, Ho Joon Producer: 20110121 In: Pediatric blood & cancer vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. [electronic resource] by Meerschaut, Ilse Bordon, Victoria Dhooge, Catharina Delbeke, Patricia Vanlander, Arnaud V Simon, Amos Klein, Christoph Kooy, R Frank Somech, Raz Callewaert, Bert Producer: 20161020 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	An overview of how on-call consultant paediatricians can recognise and manage severe primary immunodeficiencies. [electronic resource] by Wekell, Per Hertting, Olof Holmgren, Daniel Fasth, Anders Producer: 20201029 In: Acta paediatrica (Oslo, Norway : 1992) vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Hematopoietic stem cell transplantation for severe congenital neutropenia. [electronic resource] by Connelly, James A Choi, Sung W Levine, John E Producer: 20120201 In: Current opinion in hematology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. [electronic resource] by Martinón-Torres, Nazareth Vázquez-Donsión, Manuel Loidi, Lourdes Couselo, Jose Miguel Producer: 20110301 In: Pediatric blood & cancer vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. [electronic resource] by Coccia, Paola Ruggiero, Antonio Mastrangelo, Stefano Attinà, Giorgio Scalzone, Maria Pittiruti, Mauro Zampino, Giuseppe Maurizi, Palma Riccardi, Riccardo Producer: 20130314 In: Journal of paediatrics and child health vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias. [electronic resource] by Miertuš, Ján Maltese, Paolo Enrico Hýblová, Michaela Tomková, Erika Ďurovčíková, Darina Rísová, Vanda Bertelli, Matteo Producer: 20201026 In: Journal of biotechnology vol. 311 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described. [electronic resource] by Hipólito, Lucía N Mendoza-Cembranos, María D Villaescusa, María T Jo-Velasco, Margarita Requena, Luis Alegría-Landa, Victoria Producer: 20200213 In: Journal of cutaneous pathology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. [electronic resource] by Ballmaier, Matthias Germeshausen, Manuela Producer: 20120203 In: Seminars in thrombosis and hemostasis vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. [electronic resource] by Lord, Steven V Jimenez, Joaquin E Kroeger, Zachary A Patrick, Cory S Sanchez-Pena, Isalis Ziga, Edward Bademci, Guney Tekin, Mustafa Producer: 20180820 In: Clinical dysmorphology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure. [electronic resource] by Kreutmair, Stefanie Erlacher, Miriam Andrieux, Geoffroy Istvanffy, Rouzanna Mueller-Rudorf, Alina Zwick, Melissa Rückert, Tamina Pantic, Milena Poggio, Teresa Shoumariyeh, Khalid Mueller, Tony A Kawaguchi, Hiroyuki Follo, Marie Klingeberg, Cathrin Wlodarski, Marcin Baumann, Irith Pfeifer, Dietmar Kulinski, Michal Rudelius, Martina Lemeer, Simone Kuster, Bernhard Dierks, Christine Peschel, Christian Cabezas-Wallscheid, Nina Duque-Afonso, Jesus Zeiser, Robert Cleary, Michael L Schindler, Detlev Schmitt-Graeff, Annette Boerries, Melanie Niemeyer, Charlotte M Oostendorp, Robert Aj Duyster, Justus Illert, Anna Lena Producer: 20210202 In: The Journal of clinical investigation vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	Pearson syndrome. [electronic resource] by Farruggia, Piero Di Marco, Floriana Dufour, Carlo Producer: 20190103 In: Expert review of hematology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. [electronic resource] by Tarek, N Kernan, N A Prockop, S E Scaradavou, A Small, T N O'Reilly, R J Boulad, F Producer: 20120906 In: Bone marrow transplantation vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	95.	Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies. [electronic resource] by Eshuis-Peters, Ellis Versluys, Anne Brigitta Stokman, Marijn Fijke van der Crabben, Saskia Nanette Nij Bijvank, Sebastiaan W A van Wezel-Meijler, Gerda Producer: 20161215 In: Neuropediatrics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Coexistence of Gaucher Disease and severe congenital neutropenia. [electronic resource] by Kose, Melis Demir Canda, Ebru Kağnıcı, Mehtap Uçar, Sema Kalkan Onay, Hüseyin Yıldırım Sozmen, Eser Karapınar, Deniz Özkınay, Ferda Çoker, Mahmut Producer: 20190429 In: Blood cells, molecules & diseases vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	G6PC3 mutations cause non-syndromic severe congenital neutropenia. [electronic resource] by Banka, Siddharth Wynn, Robert Byers, Helen Arkwright, Peter D Newman, William G Producer: 20130702 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	Dysbiosis of the Oral Ecosystem in Severe Congenital Neutropenia Patients. [electronic resource] by Zaura, Egija Brandt, Bernd W Buijs, Mark J Emingil, Gülnur Ergüz, Merve Karapinar, Deniz Yilmaz Pekpinarli, Burç Bao, Kai Belibasakis, Georgios N Bostanci, Nagihan Producer: 20210503 In: Proteomics. Clinical applications vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	The importance of dental care for a child with severe congenital neutropenia: a case report. [electronic resource] by Antonio, Andréa Gonçalves Alcantara, Paula Cristina da Costa Ramos, Maria Eliza Barboza de Souza, Ivete Pomarico Ribeiro Producer: 20110328 In: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency. [electronic resource] by Yang, Bicheng Wang, Feng Producer: 20180430 In: Indian pediatrics vol. 55 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 364 results.