1096-4959 < 1096-8628 < 1096-8644

Facettes : Author.f AffOrg.f AffPays.f AffRegion.f AffVille.f Teeft.f

List of bibliographic references

Number of relevant bibliographic references: 27.
[0-20] [0 - 20][0 - 27][20-26][20-40]

Ident.	Authors (with country if any)	Title
003933 (2002)	Alasdair G. W. Hunter [Canada]	Coffin‐Lowry syndrome: A 20‐year follow‐up and review of long‐term outcomes
003A35 (2001)	Keiko Akahoshi [Japon] ; Shin-Ichi Moriwaki [Japon] ; Satoshi Kimiya [Japon] ; Isamu Takahashi [Japon] ; Yoshimitsu Fukushima [Japon]	Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation
003B50 (2001)	Bishakha Rajagopalan [Australie]	Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa
003F66 (2000)	John M. Opitz [États-Unis] ; Edward B. Clark	Heart development: An introduction
004589 (1998)	André Mégarbané [Liban] ; Ziad Noujeim [Liban] ; Michel Fabre [France] ; Vazken M. Der Kaloustian [Canada]	New form of hidrotic ectodermal dysplasia in a Lebanese family
004669 (1998)	Alan Shanske [États-Unis] ; Issac Sachmechi [États-Unis] ; Dinesh K. Patel [États-Unis] ; Alka Bishnoi [États-Unis] ; Fred Rosner [États-Unis]	An adult with 49,XYYYY karyotype: Case report and endocrine studies
004797 (1997)	William J. Craigen [États-Unis] ; Moise L. Levy [États-Unis] ; And Richard A. Lewis [États-Unis]	Schöpf‐Schulz‐Passarge syndrome with an unusual pattern of inheritance
004885 (1997)	Hans Peter M. Freihofer [Pays-Bas] ; Sajjad Walji [Pays-Bas] ; Han G. Brunner [Pays-Bas]	Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: A new multiple malformation syndrome
004B61 (1996)	Eric A. Wulfsberg [États-Unis] ; Andrew B. Campbell [États-Unis] ; Iosif W. Lurie [États-Unis] ; Karen R. Eanet [États-Unis]	Confirmation of the catania brachydactylous type of acrofacial dysostosis: Report of a second family
004E18 (1995)	Patricia G. Wheeler [États-Unis] ; David D. Weaver [États-Unis] ; Catherine G. Palmer [États-Unis]	Familial translocation resulting in Wolf‐Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39‐year‐old man with Wolf‐Hirschhorn syndrome
005063 (1994)	Alisa M. Goldstein [États-Unis] ; Berham Pastakia [États-Unis] ; John J. Digiovanna [États-Unis] ; Susanna Poliak [États-Unis] ; Sandra Santucci [États-Unis] ; Ronald Kase [États-Unis] ; Allen E. Bale [États-Unis] ; Sherri J. Bale [États-Unis]	Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
005274 (1993)	A. V. Hing [États-Unis] ; S. B. Dowton [États-Unis]	Aase syndrome: Novel radiographic features
005352 (1992)	Rhiannon M. Hughes-Benzie [Canada] ; Alasdair G. W. Hunter [Canada] ; Judith E. Allanson [Canada] ; Alex E. Mackenzie [Canada]	Simpson‐golabi‐behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen‐q21
005705 (1990)	M. W. Partington [Canada, Australie]	Rubinstein‐Taybi syndrome: A follow‐up study
005720 (1990)	James K. Hartsfield Jr. ; Boris G. Kousseff	Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
005730 (1990)	Raoul C. M. Hennekam [Pays-Bas] ; Jaap M. Van Doorne [Pays-Bas]	Oral aspects of Rubinstein‐Taybi syndrome
005742 (1990)	R. Gershoni-Baruch [Israël] ; E. V. Moor [Israël] ; R. Enat [Israël]	Marfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadism
005880 (1989)	Sandy C. Marks Jr.	Osteoclast biology: Lessons from mammalian mutations
005A56 (1988)	Oliver W. J. Quarrell [Royaume-Uni] ; Merryl A. Hamill ; Helen E. Hughes ; John M. Opitz ; James F. Reynolds	Pallister‐Killian mosaic syndrome with emphasis on the adult phenotype
005A58 (1988)	L. Stefan Levin [États-Unis] ; Richard J. Young [États-Unis] ; Reed E. Pyeritz [États-Unis] ; John M. Opitz ; James F. Reynolds	Osteogenesis imperfecta type I with unusual dental abnormalities
005D85 (1986)	Ann C. M. Smith [États-Unis] ; Loris Mcgavran [États-Unis] ; Jeannie Robinson [États-Unis] ; Gail Waldstein [États-Unis] ; Jean Macfarlane [États-Unis] ; Jon Zonona [États-Unis] ; Jacob Reiss [États-Unis] ; Martin Lahr [États-Unis] ; Leland Allen [États-Unis] ; Ellen Magenis [États-Unis] ; John M. Opitz ; James F. Reynolds	Interstitial deletion of (17)(p11.2p11.2) in nine patients

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