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Results 1 to 25 of 4663

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TSEN54 mutations cause pontocerebellar hypoplasia type 5NAMAVAR, Yasmin; CHITAYAT, David; BARTH, Peter G et al.European journal of human genetics. 2011, Vol 19, Num 6, pp 724-726, issn 1018-4813, 3 p.Article

Pontocerebellar Hypoplasia Type 6: A British Case With PEHO-Like FeaturesRANKIN, Julia; BROWN, Ruth; DOBYNS, William B et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 8, pp 2079-2084, issn 1552-4825, 6 p.Article

Pax8 et hypoplasie thyroïdienneCASTANET, Mireille; LEGER, Juliane; POLAK, Michel et al.MTE. Médecine thérapeutique endocrinologie. 2001, Vol 3, Num 5, pp 370-377, issn 1295-9359Article

Familial Odontoid HypoplasiaSTEVENS, Cathy A; PEARCE, Richard G; BURTON, Edward M et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1290-1292, issn 1552-4825, 3 p.Article

Hypoplasia of the epiglottis in a middle-aged manROH, Jong-Lyel.European archives of oto-rhino-laryngology. 2005, Vol 262, Num 6, pp 470-472, issn 0937-4477, 3 p.Article

DENTAL FINDINGS IN HAMAMY SYNDROMEGULER, C; KESKIN, G.Genetic counseling. 2014, Vol 25, Num 4, pp 383-387, issn 1015-8146, 5 p.Article

A propos d'un cas de syndrome de Down avec hypoplasie palpébrale sévère = About a case of a Down's syndrome with severe eyelid hypoplaseaORTIZ-MONASTERIO, F; SAAVEDRA, D; DE SAINT-MARTIN, R et al.La Semaine des hôpitaux de Paris. 1983, Vol 59, Num 45, pp 3143-3145, issn 0037-1777Article

Lymphatic hypoplasia without lymphoedemaMCIVOR, J; TYAGI, G.Clinical radiology. 1984, Vol 35, Num 6, pp 503-505, issn 0009-9260Article

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaNAMAVAR, Yasmin; BARTH, Peter G; BASEL-VANAGAITE, Lina et al.Brain. 2011, Vol 134, pp 143-156, issn 0006-8950, 14 p., 1Article

Laryngotracheal hypoplasia : A rare cause of difficult intubationBHAGCHANDANI, T; MOHTA, M; SETHI, A. K et al.Anaesthesia and intensive care. 2006, Vol 34, Num 1, pp 107-110, issn 0310-057X, 4 p.Article

Pontocerebellar Hypoplasia in Association With De Novo 19p13.11p13.12 MicrodeletionGALLANT, Natalie M; BALDWIN, Erin; SALAMON, Noriko et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2871-2878, issn 1552-4825, 8 p.Article

Thumb HypoplasiaRILEY, Scott A; BURGESS, Ronald C.The Journal of hand surgery (St. Louis, Mo.). 2009, Vol 34A, Num 8, pp 1564-1573, issn 0363-5023, 10 p.Article

Identification of a single birth cohort in Kenyapithecus kizili and the nature of sympatry between K. kizili and Griphopithecus alpani at Paşalar = Identification d'une cohorte de naissance unique chez les Kenyapithecus kizili et nature de la sympatrie entre K. kizili et Griphopithecus alpani à PaşalarKELLEY, Jay.Journal of human evolution. 2008, Vol 54, Num 4, pp 530-537, issn 0047-2484, 8 p.Article

Hypoplasie dermique en aires (syndrome de Goltz-Gorlin). A propos d'une observation = Focal dermal hypoplasia (Goltz Gorlin syndrome)GOTTRAND, F.Revue internationale de pédiatrie. 1984, Num 146, pp 26-27, issn 0048-8135Article

Mastoid abnormalities in Down syndromeGLASS, R. B. J; YOUSEFZADEH, D. K; ROIZEN, N. J et al.Pediatric radiology. 1989, Vol 19, Num 5, pp 311-312, issn 0301-0449, 2 p.Article

Experimental study on embryogenesis of congenital diaphragmatic herniaIRITANI, I.Anatomy and embryology. 1984, Vol 169, Num 2, pp 133-139, issn 0340-2061Article

Hand-reduction malformations: genetic and syndromic analysisPILARSKI, R. T; PAULI, R. M; ENGBER, W. D et al.Journal of pediatric orthopedics. 1985, Vol 5, Num 3, pp 274-280, issn 0271-6798Article

Familial congenital hypoplasia of the thumbNAKAMURA, J; KANAHARA, K; ENDO, Y et al.Journal of hand surgery. British volume. 1984, Vol 9, Num 2, pp 145-148, issn 0266-7681Article

Odontoid hypoplasiaMCMANNERS, T.British journal of radiology. 1983, Vol 56, Num 672, pp 907-910, issn 0007-1285Article

Unilateral Pulmonary Hypoplasia with Abdominal Situs InversusSARKAR, Sumantra; MONDAL, Rakesh; NANDI, Madhumita et al.Indian journal of pediatrics. 2012, Vol 79, Num 10, pp 1360-1362, issn 0019-5456, 3 p.Article

Pseudolisthesis secondary to small L5MOHAMMAD HADI BAGHERI; MEHRDAD MOHAMMAD HOSSEINI; AMIN ABOULHASSANI FOROUGHI et al.European journal of radiology. 2011, Vol 80, Num 3, pp 802-804, issn 0720-048X, 3 p.Article

Focal dermal hypoplasia syndrome: case report and literature reviewHALL, E. H; TEREZHALMY, G. T.Journal of the American Academy of Dermatology. 1983, Vol 9, Num 3, pp 443-451, issn 0190-9622Article

Aniridia and optic nerve hypoplasiaMCCULLEY, T. J; MAYER, K; DAHR, S. S et al.Eye (London. 1987). 2005, Vol 19, Num 7, pp 762-764, issn 0950-222X, 3 p.Article

Prenatal Diagnosis of Femoral-Facial Syndrome: Report of Two CasesSILVAS, Emil; RYPENS, Françoise; JOVANOVIC, Mubina et al.Birth defects research. Clinical and molecular teratology. 2013, Vol 97, Num 12, pp 770-773, issn 1542-0752, 4 p.Article

Index Finger PollicizationTAGHINIA, Amir H; UPTON, Joseph.The Journal of hand surgery (St. Louis, Mo.). 2011, Vol 36A, Num 2, pp 333-339, issn 0363-5023, 7 p.Article

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