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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

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

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasiaBONGERS, Ernie M. H. F; VAN BOKHOVEN, Hans; KNOERS, Nine V. A. M et al.American journal of medical genetics. 2002, Vol 108, Num 1, pp 78-79, issn 0148-7299Article

Hypoplasie dermique en aires. A propos d'un cas africain = Focal dermal hypoplasia. First African caseAVON, P; SEM BOMAUD, D; HEROIN, P et al.Les Nouvelles dermatologiques. 1986, Vol 5, Num 4, issn 0752-5370, 310Article

Pontocerebellar Hypoplasia Type 1SZABO, Nora; SZABO, Hajnalka; HORTOBAGYI, Tibor et al.Pediatric neurology. 2008, Vol 39, Num 4, pp 286-288, issn 0887-8994, 3 p.Article

A propos du «syndrome de Cauhépé-Fieux». L'interception en denture lactéale des hypoplasies de l'étage moyen = Cauhépé-Fieux syndrome: action in the milk dentition stage to prevent mid facial hypoplasiaBRETHAUX, J; DEFFEZ, J. P; FRANCHI-DEFEZ, I et al.Revue de stomatologie et de chirurgie maxillo-faciale. 1989, Vol 90, Num 2, pp 236-240, issn 0035-1768Article

Hypoplastic left heart syndrome: new developments and current controversiesGOLDBERG, Caren S; GOMEZ, Carlen A.Seminars in neonatology. 2003, Vol 8, Num 6, pp 461-468, issn 1084-2756, 8 p.Article

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studiesCASSANDRINI, D; BIANCHERI, R; EMMA, F et al.Neurology. 2010, Vol 75, Num 16, pp 1459-1464, issn 0028-3878, 6 p.Article

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?QUINTERO-RIVERA, Fabiola; LEACH, Natalia T; DE LA CHAPELLE, Albert et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 15, pp 1796-1798, issn 1552-4825, 3 p.Article

Inherited adrenal hypoplasia: not just for kids!LIN LIN; ACHERMANN, John C.Clinical endocrinology (Oxford. Print). 2004, Vol 60, Num 5, pp 529-537, issn 0300-0664, 9 p.Article

Vici Syndrome Associated With Unilateral Lung Hypoplasia and MyopathyAL-OWAIN, Mohammed; AL-HASHEM, Amal; AL-MUHAIZEA, Mohammed et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1849-1853, issn 1552-4825, 5 p.Article

Goltz-Gerlin-Syndrom bei einem Mann = Syndrome de Goltz Gorlin chez un homme (Hypoplasie dermique en aire) = Goltz Gorlin syndrome in a man (Focal dermal hypoplasia)REBER, T; WOLTERS, T; GOOS, M et al.Hautarzt. 1987, Vol 38, Num 4, pp 218-223, issn 0017-8470Article

Hypoplasie fovéolaire chez un albinos = Foveal hypoplasia in an albinoHANDOR, H; LAGHMARI, M; HAFIDI, Z et al.Journal français d'ophtalmologie. 2014, Vol 37, Num 4, pp 345-346, issn 0181-5512, 2 p.Article

Visual Insignificance of the Foveal Pit : Reassessment of Foveal Hypoplasia as Fovea PlanaMARMOR, Michael F; CHOI, Stacey S; ZAWADZKI, Robert J et al.Archives of ophthalmology (1960). 2008, Vol 126, Num 7, pp 907-913, issn 0003-9950, 7 p.Article

Congenital absence and hypoplasia of pedicles in the thoracic spineLEDERMAN, H. M; KAUFMAN, R. A.Skeletal radiology. 1986, Vol 15, Num 3, pp 219-223, issn 0364-2348Article

Cervical Hypoplasia in Jennets: A Description of Two CasesPAYAN-CARREIRA, R; QUARESMA, M.Reproduction in domestic animals (1990). 2010, Vol 45, Num 3, pp 540-544, issn 0936-6768, 5 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

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutationsRUDNIK-SCHÖNEBORN, Sabine; SENDEREK, Jan; SEEGER, Jürgen et al.Neurology. 2013, Vol 80, Num 5, pp 438-446, issn 0028-3878, 9 p.Article

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

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBUDDE, Birgit S; NAMAVAR, Yasmin; ARONICA, Eleonora et al.Nature genetics. 2008, Vol 40, Num 9, pp 1113-1118, issn 1061-4036, 6 p.Article

Cervical myelopathy from atlantal hypoplasia and torticollisPARK, Moon-Soo; LEE, Hwan-Mo; HAHN, Soo-Bong et al.Clinical orthopaedics and related research. 2006, Num 451, pp 274-278, issn 0009-921X, 5 p.Article

Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4RUDAKS, Laura I; MOORE, Lynette; SHAND, Karen L et al.Pediatric neurology. 2011, Vol 45, Num 3, pp 185-188, issn 0887-8994, 4 p.Article

Absence of the Trochlear Nerve in Patients with Superior Oblique HypoplasiaJAE HYOUNG KIM; HWANG, Jeong-Min.Ophthalmology (Rochester, MN). 2010, Vol 117, Num 11, pp 2208-2213, issn 0161-6420, 6 p.Article

Monocular temporal hemianopia associated with optic nerve hypoplasiaSMOLYAR, Albert; EGGENBERGER, Eric R; KAUFMAN, David I et al.Archives of ophthalmology (1960). 2005, Vol 123, Num 8, issn 0003-9950, p. 1155Article

Characteristics of segmental optic nerve hypoplasiaKIM, U. S; BAEK, S.-H; LEE, J. H et al.Eye (London. 1987). 2012, Vol 26, Num 12, pp 1585-1586, issn 0950-222X, 2 p.Article

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