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1
14q32.3 deletion syndrome with autism
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
J. Lawrence Merritt , Syed M. Jalal , William J. Barbaresi , Dusica Babovic-Vuksanovic
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.30462
ISSN: 1552-4825
Sayı: 1
Cilt: 133A
Sayfa: 99-100
2
Clinical variability in KBG syndrome: Report of three unrelated families
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Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Gustavo Henrique Boff Maegawa , Júlio Cesar Loguercio Leite , Têmis Maria Félix , Heraldo Luís Dias da Silveira , Heloísa Emília da Silveira
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.30293
ISSN: 1552-4825
Sayı: 2
Cilt: 131A
Sayfa: 150-154
3
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Anna-Kaisa Niemi , Hope Northrup , Louanne Hudgins , Jonathan A. Bernstein
Yıl :
2011
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.34197
ISSN: 1552-4825
Sayı: 10
Cilt: 155
Sayfa: 2534-2537
4
MTHFR677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla , David Prieto , Luis Prieto
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.30464
ISSN: 1552-4825
Sayı: 4
Cilt: 134A
Sayfa: 461-461
5
Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Peter Wieacker , Petra Muschke , Karl-Heinz Pollak , Roberto Müller
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.30392
ISSN: 1552-4825
Sayı: 3
Cilt: 132A
Sayfa: 318-319
6
Response to correspondence by Dr. Finsterer and Dr. Stöllberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Ludwig Thierfelder , Sabine Sasse-Klaassen , Brenda Gerull , Rolf Jenni , Erwin Oechslin
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
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Kaydet
DOI : 10.1002/ajmg.a.30211
ISSN: 1552-4825
Sayı: 2
Cilt: 131A
Sayfa: 222-223
7
Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Tanya M. Bardakjian , Adele Schneider
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30442
ISSN: 1552-4825
Sayı: 1
Cilt: 132A
Sayfa: 54-56
8
Unique survival in chrondrodysplasia-hermaphrodism syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Christel Thauvin-Robinet , Francine Mugneret , Patrick Callier , Mondher Chouchane , Emmanuel Garron , Eric Manceau , Nicole Laurent , Christine Durand , Annie Nivelon-Chevallier , Emmanuel Sapin , Frédéric Huet , Laurence Faivre
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30417
ISSN: 1552-4825
Sayı: 3
Cilt: 132A
Sayfa: 335-337
9
Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Fowzan S. Alkuraya , Angela E. Lin , Mira B. Irons , Virginia E. Kimonis
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30423
ISSN: 1552-4825
Sayı: 2
Cilt: 132A
Sayfa: 226-230
10
Reply to Unger: The mildest form of campomelic dysplasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Heather Stalker , Roberto Zori , Margaret Wallace , Kate Hill-Harfe , Lee Kaplan
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30452
ISSN: 1552-4825
Sayı: 1
Cilt: 132A
Sayfa: 114-115
11
An intragenic deletion of the geneMNAT1in a family with pectus deformities
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Jennifer L. Heithaus , Sandra Davenport , Kimberly A. Twyman , Erin E. Torti , Jacqueline R. Batanian
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36445
ISSN: 1552-4825
Sayı: 5
Cilt: 164
Sayfa: 1293-1297
12
Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Gloria Queipo , Karem Nieto , Patricia Grether , Sara Frías , Rebeca Álvarez , Icela Palma , Luis Eraña , Yolanda R. Peña , Susana Kofman-Alfaro
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30737
ISSN: 1552-4825
Sayı: 4
Cilt: 136A
Sayfa: 386-389
13
AJMG reviewers 2004
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30817
ISSN: 1552-4825
Sayı: 2
Cilt: 136A
Sayfa: 228-231
14
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Kenia Balbi EI-Jaick , Decio Brunoni , Eduardo E. Castilla , Miguel Angelo Moreira , Iêda Mario Orioli
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30624
ISSN: 1552-4825
Sayı: 4
Cilt: 136A
Sayfa: 345-345
15
Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Adina Quint , Israela Lerer , Michal Sagi , Dvorah Abeliovich
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30823
ISSN: 1552-4825
Sayı: 3
Cilt: 136A
Sayfa: 246-248
16
X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
W.P. Robinson , M.S. Peñaherrera , J. Gair , C. Hatakeyama , S. Ma
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30886
ISSN: 1552-4825
Sayı: 3
Cilt: 137A
Sayfa: 343-345
17
A case of C3 deficiency with a novel homozygous two-base deletion in theC3 gene
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Hirotaka Fujioka , Tadashi Ariga , Minako Yoda , Masaya Ohsaki , Katsumi Horiuchi , Makoto Otsu , Tsuneki Sugihara , Yukio Sakiyama
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30964
ISSN: 1552-4825
Sayı: 4
Cilt: 138A
Sayfa: 399-400
18
Partial trisomy 4q and preaxial limb defects
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Iosif W. Lurie
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30960
ISSN: 1552-4825
Sayı: 3
Cilt: 138A
Sayfa: 304-305
19
Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44-50, 2004)
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Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
P. Poorkaj , J.G. Nutt , D. James , S. Gancher , T.D. Bird , E. Steinbart , G.D. Schellenberg , Haydeh Payami
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30937
ISSN: 1552-4825
Sayı: 1
Cilt: 139A
Sayfa: 56-56
20
Reply to letter to the editor by Crow: “Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects”
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
J. Román Corona-Rivera , Rubén Fragoso-Herrera , Verónica Loera-Castañeda
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30871
ISSN: 1552-4825
Sayı: 2
Cilt: 137A
Sayfa: 234-234
21
Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Piers R. Blackett , Shibo Li , John J. Mulvihill
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.20386
ISSN: 1552-4825
Sayı: 2
Cilt: 137A
Sayfa: 213-216
22
Screening for newMTHFR polymorphisms and NTD risk
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Valerie B. O'Leary , James L. Mills , Anne Parle-McDermott , Faith Pangilinan , Anne M. Molloy , Christopher Cox , Andrea Weiler , Mary Conley , Peadar N. Kirke , John M. Scott , Lawrence C. Brody
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30846
ISSN: 1552-4825
Sayı: 2
Cilt: 138A
Sayfa: 99-106
23
Kallmann syndrome in a 47,XXX patient
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Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
E.P.M. Corssmit , S.B. Seminara , N. Pitteloud , E. Fliers
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30996
ISSN: 1552-4825
Sayı: 1
Cilt: 139A
Sayfa: 52-53
24
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms
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Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Kae Munakata , Miki Bundo , Tadafumi Kato , Hiroaki Ono , Nobuo Sakura , Minoru Oosaki , Chiaki Waki , Masashi Tanaka
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.31003
ISSN: 1552-4825
Sayı: 2
Cilt: 139A
Sayfa: 162-164
25
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Celine Pebrel-Richard , Charles Rouzade , Stephan Kemeny , Eleonore Eymard-Pierre , Mathilde Gay-Bellile , Laetitia Gouas , Andreï Tchirkov , Carole Goumy , Philippe Vago
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36715
ISSN: 1552-4825
Sayı: 11
Cilt: 164
Sayfa: 2964-2967
26
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Tara L. Wenger , Margaret Harr , Stefania Ricciardi , Elizabeth Bhoj , Avni Santani , Margaret P. Adam , Sarah S. Barnett , Rebecca Ganetzky , Donna M. McDonald-McGinn , Domenica Battaglia , Stefania Bigoni , Angelo Selicorni , Giovanni Sorge , Matteo Della Monica , Francesca Mari , Elena Andreucci , Silvia Romano , Guido Cocchi , Salvatore Savasta , Baris Malbora , Giuseppe Marangi , Livia Garavelli , Marcella Zollino , Elaine H. Zackai
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36696
ISSN: 1552-4825
Sayı: 10
Cilt: 164
Sayfa: 2557-2566
27
Variable phenotype and associations in chromosome 22q11.2 microdeletion
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Murat Derbent , Yunus Emre Bikmaz , Zerrin Yilmaz , Kursad Tokel
Konu :
Genetics(clinical), Genetics
Yıl :
2006
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.31120
ISSN: 1552-4825
Sayı: 6
Cilt: 140A
Sayfa: 659-660
28
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Annette E. Cockwell , Samantha J. Baker , Margaret Connarty , Isabella E. Moore , John A. Crolla
Konu :
Genetics(clinical), Genetics
Yıl :
2006
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.31129
ISSN: 1552-4825
Sayı: 6
Cilt: 140A
Sayfa: 624-627
29
Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Luitgard M. Neumann , Vincent El Ghouzzi , Vincent Paupe , Hans-Peter Weber , Elisabeth Fastnacht , Andreas Leenen , Sigrid Lyding , Anne Klusmann , Ertan Mayatepek , Jörg Pelz , Valerie Cormier-Daire
Konu :
Genetics(clinical), Genetics
Yıl :
2006
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.31090
ISSN: 1552-4825
Sayı: 5
Cilt: 140A
Sayfa: 421-426
30
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
C. Tyson , C. Harvard , R. Locker , J.M. Friedman , S. Langlois , M.E.S. Lewis , M. Van Allen , M. Somerville , L. Arbour , L. Clarke , B. McGilivray , S.L. Yong , J. Siegel-Bartel , E. Rajcan-Separovic
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.31015
ISSN: 1552-4825
Sayı: 3
Cilt: 139A
Sayfa: 173-185

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