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1
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family

Zannolli, R. ; Pierluigi, M. ; Pucci, L. ; Lagrasta, N. ; Gasparre, O. ; Matera, M.R. ; Di Bartolo, R.M. ; Mazzei, M.A. ; Sacco, P. ; Miracco, C. ; de Santi, M.M. ; Aitiani, P. ; Cavani, S. ; Pellegrini, L. ; Fimiani, M. ; Alessandrini, C. ; Galluzzi, P. ; Livi, W. ; Gonnelli, S. ; Terrosi‐Vagnoli, P. ; Zappella, M. ; Morgese, G.

American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199 [Revista revisada por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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2
2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology
2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology
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2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology

Epstein, Richard J. ; Tian, Li Jun ; Gu, Yan Fei Singh, Chandra ; Chandra Singh

Journal of oncology, 2021, Vol.2021, p.9955456-16 [Revista revisada por pares]

Egypt: Hindawi

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3
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis

Leupold, D ; Bojasch, M ; Jakobs, C

European journal of pediatrics, 1982-02, Vol.138 (1), p.73-76 [Revista revisada por pares]

Germany

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4
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
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3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring

Abeliovich, Dvorah ; Yagupsky, Pablo ; Bashan, Nava ; Opitz, John M.

American journal of medical genetics, 1982-05, Vol.12 (1), p.83-89

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
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3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome

Hoo, Joe J. ; Kreiter, Mary ; Halverson, Nancy ; Perszyk, Anthony

American journal of medical genetics, 1994-08, Vol.52 (1), p.66-69

New York: Wiley Subscription Services, Inc., A Wiley Company

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6
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
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3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Kague, Erika ; Turci, Francesco ; Newman, Elis ; Yang, Yushi ; Brown, Kate Robson ; Aglan, Mona S ; Otaify, Ghada A ; Temtamy, Samia A ; Ruiz-Perez, Victor L ; Cross, Stephen ; Royall, C Patrick ; Witten, P Eckhard ; Hammond, Chrissy L

Bone research, 2021-08, Vol.9 (1), p.39-39 [Revista revisada por pares]

China: Springer Nature B.V

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7
6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?
6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?
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6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?

Vermeij-Keers, Christl ; Poelmann, Rob E. ; Smits-Van Prooije, Annette E.

Teratology (Philadelphia), 1987-08, Vol.36 (1), p.1-6

New York: Wiley Subscription Services, Inc., A Wiley Company

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8
A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
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A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys

Chen, Chih-Ping ; Tzen, Chin-Yuan ; Chern, Schu-Rern ; Tsai, Fuu-Jen ; Hsu, Chin-Yuan ; Lee, Chen-Chi ; Lee, Meng-Shan ; Pan, Chen-Wen ; Wang, Wayseen

European journal of medical genetics, 2009-01, Vol.52 (1), p.59-61 [Revista revisada por pares]

Amsterdam: Elsevier Masson SAS

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9
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with greig cephalopolysyndactyly syndrome
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with greig cephalopolysyndactyly syndrome
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A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with greig cephalopolysyndactyly syndrome

Gemmill, Robert M. ; Varella-Garcia, Marileila ; Smith, David I. ; Erickson, Paul ; Golembieski, William ; Miller, York ; Coyle-Morris, Jane ; Tommerup, Neils ; Drabkin, Harry A.

Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.93-102 [Revista revisada por pares]

San Diego, CA: Elsevier Inc

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10
A 6-Year Experience of 100 Cases of Pediatric Bony Craniovertebral Junction Abnormalities: Treatment and Outcomes
A 6-Year Experience of 100 Cases of Pediatric Bony Craniovertebral Junction Abnormalities: Treatment and Outcomes
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A 6-Year Experience of 100 Cases of Pediatric Bony Craniovertebral Junction Abnormalities: Treatment and Outcomes

Yerramneni, Vamsi Krishna ; Chandra, P. Sarat ; Kale, Shashank S. ; Lythalling, Rajender K. ; Mahapatra, Ashok Kumar

Pediatric neurosurgery, 2011-09, Vol.47 (1), p.45-50 [Revista revisada por pares]

Basel, Switzerland: S. Karger AG

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